TaoMedAI/RareMedData huggingface dataset:
Gene: GABRB3
Disease: EPILEPSY, CHILDHOOD ABSENCE, SUSCEPTIBILITY TO, 5 (OMIM:612269)
Association type: POLYGENIC
Gene: GABRB3
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: GABRB3
Disease: Childhood absence epilepsy; Pyknolepsy (ORPHA:64280)
Association type: UNKNOWN
Gene: PIK3C2A
Disease: OCULOSKELETODENTAL SYNDROME (OMIM:618440)
Association type: MENDELIAN
Gene: PIK3C2A
Disease: Oculoskeletodental syndrome; Oculo-skeleto-dental syndrome (ORPHA:557003)
Association type: UNKNOWN
Gene: NPRL3
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3 (OMIM:617118)
Association type: MENDELIAN
Gene: NPRL3
Disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Association type: UNKNOWN
Gene: NECTIN1
Disease: CLEFT LIP/PALATE-ECTODERMAL DYSPLASIA SYNDROME (OMIM:225060)
Association type: MENDELIAN
Gene: NECTIN1
Disease: Isolated cleft lip (ORPHA:199302)
Association type: UNKNOWN
Gene: NECTIN1
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: NECTIN1
Disease: Cleft lip/palate-ectodermal dysplasia syndrome; CLPED1; Cleft lip/palate-syndactyly-pili torti syndrome; Syndactyly-ectodermal dysplasia-cleft/lip palate; Zlotogora-Ogur syndrome (ORPHA:3253)
Association type: UNKNOWN
Gene: NECTIN1
Disease: Cleft lip and alveolus (ORPHA:141291)
Association type: UNKNOWN
Gene: NPRL2
Disease: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 2 (OMIM:617116)
Association type: MENDELIAN
Gene: NPRL2
Disease: Familial focal epilepsy with variable foci; FFEVF; Familial partial epilepsy with variable foci (ORPHA:98820)
Association type: UNKNOWN
Gene: SERPINB8
Disease: PEELING SKIN SYNDROME 5 (OMIM:617115)
Association type: MENDELIAN
Gene: SERPINB8
Disease: Peeling skin syndrome type A; Generalized peeling skin syndrome type A; Non-inflammatory generalized peeling skin syndrome type A.; Non-inflammatory peeling skin syndrome type A; PSS type A (ORPHA:263548)
Association type: UNKNOWN
Gene: SERPINB8
Disease: Exfoliative ichthyosis; Autosomal recessive exfoliative ichthyosis; Ichthyosis exfoliativa (ORPHA:289586)
Association type: UNKNOWN
Gene: FBXO28
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100 (OMIM:619777)
Association type: MENDELIAN
Gene: FBXO28
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: CEP295
Disease: SECKEL SYNDROME 11 (OMIM:620767)
Association type: MENDELIAN
Gene: GAS2L2
Disease: CILIARY DYSKINESIA, PRIMARY, 41 (OMIM:618449)
Association type: MENDELIAN
Gene: GAS2L2
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: SAMD7
Disease: MACULAR DYSTROPHY WITH OR WITHOUT CONE DYSFUNCTION (OMIM:620762)
Association type: MENDELIAN
Gene: MCOLN1
Disease: CORNEAL DYSTROPHY, LISCH EPITHELIAL (OMIM:620763)
Association type: MENDELIAN
Gene: MCOLN1
Disease: MUCOLIPIDOSIS IV (OMIM:252650)
Association type: MENDELIAN
Gene: MCOLN1
Disease: Mucolipidosis type IV (ORPHA:578)
Association type: UNKNOWN
Gene: WIPI2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND VARIABLE SKELETAL ANOMALIES (OMIM:618453)
Association type: MENDELIAN
Gene: GRAP
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 114 (OMIM:618456)
Association type: MENDELIAN
Gene: GRAP
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: LIG3
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 20 (MNGIE TYPE) (OMIM:619780)
Association type: MENDELIAN
Gene: LIG3
Disease: Mitochondrial neurogastrointestinal encephalomyopathy; MNGIE (ORPHA:298)
Association type: UNKNOWN
Gene: ZC3H14
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 56 (OMIM:617125)
Association type: MENDELIAN
Gene: ZC3H14
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: IREB2
Disease: NEURODEGENERATION, EARLY-ONSET, WITH CHOREOATHETOID MOVEMENTS AND MICROCYTIC ANEMIA (OMIM:618451)
Association type: MENDELIAN
Gene: SLC14A1
Disease: BLOOD GROUP, KIDD SYSTEM (OMIM:111000)
Association type: MENDELIAN
Gene: NSUN6
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 82 (OMIM:620779)
Association type: MENDELIAN
Gene: TAF6
Disease: ALAZAMI-YUAN SYNDROME (OMIM:617126)
Association type: MENDELIAN
Gene: TAF6
Disease:  (ORPHA:694946)
Association type: UNKNOWN
Gene: CAPNS1
Disease: PULMONARY HYPERTENSION, PRIMARY, 6 (OMIM:620777)
Association type: MENDELIAN
Gene: SPNS2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 115 (OMIM:618457)
Association type: MENDELIAN
Gene: RACGAP1
Disease: ANEMIA, CONGENITAL DYSERYTHROPOIETIC, TYPE IIIb, AUTOSOMAL RECESSIVE (OMIM:619789)
Association type: MENDELIAN
Gene: RACGAP1
Disease: Congenital dyserythropoietic anemia type III; CDA III; CDA type 3; CDA type III; Congenital dyserythropoietic anemia type 3 (ORPHA:98870)
Association type: UNKNOWN
Gene: PAK2
Disease: KNOBLOCH SYNDROME 2 (OMIM:618458)
Association type: MENDELIAN
Gene: PAK2
Disease: Knobloch syndrome; Knobloch-Layer syndrome; Retinal detachment-occipital encephalocele syndrome (ORPHA:1571)
Association type: UNKNOWN
Gene: FILIP1
Disease: NEUROMUSCULAR DISORDER, CONGENITAL, WITH DYSMORPHIC FACIES (OMIM:620775)
Association type: MENDELIAN
Gene: ARHGEF1
Disease: IMMUNODEFICIENCY 62 (OMIM:618459)
Association type: MENDELIAN
Gene: ARHGEF1
Disease:  (ORPHA:696942)
Association type: UNKNOWN
Gene: SV2A
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 113 (OMIM:620772)
Association type: MENDELIAN
Gene: ADGRE2
Disease: VIBRATORY URTICARIA (OMIM:125630)
Association type: MENDELIAN
Gene: ADGRE2
Disease: Vibratory urticaria; Vibratory angioedema/urticaria (ORPHA:493342)
Association type: UNKNOWN
Gene: POU6F2
Disease: WILMS TUMOR 5 (OMIM:601583)
Association type: POLYGENIC
Gene: POU6F2
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: RILPL1
Disease: OCULOPHARYNGODISTAL MYOPATHY 4 (OMIM:619790)
Association type: MENDELIAN
Gene: RILPL1
Disease: Oculopharyngodistal myopathy; OPDM; Oculopharyngeal distal myopathy (ORPHA:98897)
Association type: UNKNOWN
Gene: SLC25A11
Disease: PARAGANGLIOMAS 6 (OMIM:618464)
Association type: MENDELIAN
Gene: SLC25A11
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: UBA5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 44 (OMIM:617132)
Association type: MENDELIAN
Gene: UBA5
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24 (OMIM:617133)
Association type: MENDELIAN
Gene: UBA5
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: NCAPG2
Disease: KHAN-KHAN-KATSANIS SYNDROME (OMIM:618460)
Association type: MENDELIAN
Gene: ZPBP
Disease: SPERMATOGENIC FAILURE 66 (OMIM:619799)
Association type: MENDELIAN
Gene: ZPBP
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: ACTL6B
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 76 (OMIM:618468)
Association type: MENDELIAN
Gene: ACTL6B
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SEVERE SPEECH AND AMBULATION DEFECTS (OMIM:618470)
Association type: MENDELIAN
Gene: ACTL6B
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ACTL6B
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: FOSL2
Disease: APLASIA CUTIS-ENAMEL DYSPLASIA SYNDROME (OMIM:620789)
Association type: MENDELIAN
Gene: NAA60
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 9, AUTOSOMAL RECESSIVE (OMIM:620786)
Association type: MENDELIAN
Gene: NAA60
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: CETP
Disease: HYPERALPHALIPOPROTEINEMIA 1 (OMIM:143470)
Association type: MENDELIAN
Gene: CETP
Disease: Familial Hyperalphalipoproteinemia (ORPHA:181428)
Association type: UNKNOWN
Gene: SNF8
Disease: NEURODEVELOPMENTAL DISORDER PLUS OPTIC ATROPHY (OMIM:620784)
Association type: MENDELIAN
Gene: SNF8
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 115 (OMIM:620783)
Association type: MENDELIAN
Gene: KRT18
Disease: CIRRHOSIS, FAMILIAL (OMIM:215600)
Association type: MENDELIAN
Gene: ACBD6
Disease: NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE MOVEMENT ABNORMALITIES (OMIM:620785)
Association type: MENDELIAN
Gene: DLST
Disease: PARAGANGLIOMAS 7 (OMIM:618475)
Association type: MENDELIAN
Gene: DLST
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: TRIM44
Disease: ANIRIDIA 3 (OMIM:617142)
Association type: MENDELIAN
Gene: TRIM44
Disease: Isolated aniridia (ORPHA:250923)
Association type: UNKNOWN
Gene: SLC28A1
Disease: URIDINE-CYTIDINEURIA (OMIM:618477)
Association type: MENDELIAN
Gene: ELP4
Disease: ANIRIDIA 2 (OMIM:617141)
Association type: MENDELIAN
Gene: SRPX2
Disease: ROLANDIC EPILEPSY, MENTAL RETARDATION, AND SPEECH DYSPRAXIA, X-LINKED (OMIM:300643)
Association type: MENDELIAN
Gene: SRPX2
Disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Association type: UNKNOWN
Gene: SRPX2
Disease: Rolandic epilepsy-speech dyspraxia syndrome (ORPHA:163721)
Association type: UNKNOWN
Gene: SRPX2
Disease: Self-limited epilepsy with centrotemporal spikes; BECRS; BECTS; BRE; Benign epilepsy of childhood with centrotemporal spikes; Benign familial epilepsy of childhood with rolandic spikes; Benign rolandic epilepsy; Centrotemporal epilepsy; Rolandic epilepsy; SeLECTS (ORPHA:1945)
Association type: UNKNOWN
Gene: SON
Disease: ZTTK SYNDROME (OMIM:617140)
Association type: MENDELIAN
Gene: SON
Disease: Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome; ZTTK syndrome; Zhu-Tokita-Takenouchi-Kim syndrome (ORPHA:500150)
Association type: UNKNOWN
Gene: MAB21L1
Disease: CEREBELLAR, OCULAR, CRANIOFACIAL, AND GENITAL SYNDROME (OMIM:618479)
Association type: MENDELIAN
Gene: MAB21L1
Disease: Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome; Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome (ORPHA:495875)
Association type: UNKNOWN
Gene: SHARPIN
Disease: AUTOINFLAMMATION WITH EPISODIC FEVER AND IMMUNE DYSREGULATION (OMIM:620795)
Association type: MENDELIAN
Gene: PSMB9
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 6 (OMIM:620796)
Association type: MENDELIAN
Gene: DRD4
Disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:143465)
Association type: POLYGENIC
Gene: SNUPN
Disease:  (OMIM:620793)
Association type: MENDELIAN
Gene: PKHD1L1
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 124 (OMIM:620794)
Association type: MENDELIAN
Gene: OTUD7A
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND SEIZURES (OMIM:620790)
Association type: MENDELIAN
Gene: DHPS
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND SPEECH AND WALKING IMPAIRMENT (OMIM:618480)
Association type: MENDELIAN
Gene: TMEM132E
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 99 (OMIM:618481)
Association type: MENDELIAN
Gene: TMEM132E
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: AQP5
Disease: PALMOPLANTAR KERATODERMA, BOTHNIAN TYPE (OMIM:600231)
Association type: MENDELIAN
Gene: AQP5
Disease: Diffuse palmoplantar keratoderma, Bothnian type; Diffuse palmoplantar keratoderma, Bothnia type; NEPPK, Bothnia type; NEPPK, Bothnian type (ORPHA:2337)
Association type: UNKNOWN
Gene: F10
Disease: FACTOR X DEFICIENCY (OMIM:227600)
Association type: MENDELIAN
Gene: F10
Disease: Congenital factor X deficiency; Congenital Stuart factor deficiency; Stuart-Prower factor deficiency (ORPHA:328)
Association type: UNKNOWN
Gene: GABRB1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 45 (OMIM:617153)
Association type: MENDELIAN
Gene: PRMT7
Disease: SHORT STATURE, BRACHYDACTYLY, IMPAIRED INTELLECTUAL DEVELOPMENT, AND SEIZURES (OMIM:617157)
Association type: MENDELIAN
Gene: PRMT7
Disease: Short stature-brachydactyly-obesity-global developmental delay syndrome; SBIDDS (ORPHA:464288)
Association type: UNKNOWN
Gene: MAOA
Disease: BRUNNER SYNDROME (OMIM:300615)
Association type: MENDELIAN
Gene: MAOA
Disease: Monoamine oxidase A deficiency; Brunner syndrome (ORPHA:3057)
Association type: UNKNOWN
Gene: TFAM
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 15 (HEPATOCEREBRAL TYPE) (OMIM:617156)
Association type: MENDELIAN
Gene: ARHGEF9
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 8 (OMIM:300607)
Association type: MENDELIAN
Gene: ARHGEF9
Disease: Hyperekplexia-epilepsy syndrome (ORPHA:163985)
Association type: UNKNOWN
Gene: DYNC1I2
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY AND STRUCTURAL BRAIN ANOMALIES (OMIM:618492)
Association type: MENDELIAN
Gene: CACNA1B
Disease: NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND NONEPILEPTIC HYPERKINETIC MOVEMENTS (OMIM:618497)
Association type: MENDELIAN
Gene: CACNA1B
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: FMR1
Disease: FRAGILE X TREMOR/ATAXIA SYNDROME (OMIM:300623)
Association type: MENDELIAN
Gene: FMR1
Disease: FRAGILE X SYNDROME (OMIM:300624)
Association type: MENDELIAN
Gene: FMR1
Disease: PREMATURE OVARIAN FAILURE 1 (OMIM:311360)
Association type: MENDELIAN
Gene: FMR1
Disease: Fragile X-associated primary ovarian insufficiency; FXPOI; Fragile X-associated POF; Fragile X-associated POI; Fragile X-associated premature ovarian failure; POF associated with fragile X premutation; POI associated with fragile X premutation; Premature ovarian failure associated with fragile X premutation; Primary ovarian insufficiency associated with fragile X premutation (ORPHA:642691)
Association type: UNKNOWN
Gene: FMR1
Disease: Xq27.3q28 duplication syndrome; Dup(X)(q27.3q28); Trisomy Xq27.3-q28; Trisomy Xq27.3q28; Xq27.3-q28 microduplication syndrome (ORPHA:261483)
Association type: UNKNOWN
Gene: FMR1
Disease: Fragile X syndrome; FRAXA syndrome; FXS; FraX syndrome; Martin-Bell syndrome (ORPHA:908)
Association type: UNKNOWN
Gene: FMR1
Disease: Fragile X-associated tremor/ataxia syndrome; FXTAS syndrome (ORPHA:93256)
Association type: UNKNOWN
Gene: KIAA0825
Disease: POLYDACTYLY, POSTAXIAL, TYPE A10 (OMIM:618498)
Association type: MENDELIAN
Gene: KIAA0825
Disease: Postaxial polydactyly type A (ORPHA:93334)
Association type: UNKNOWN
Gene: GRIN2D
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 46 (OMIM:617162)
Association type: MENDELIAN
Gene: GRIN2D
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: P4HTM
Disease: HYPOTONIA, HYPOVENTILATION, IMPAIRED INTELLECTUAL DEVELOPMENT, DYSAUTONOMIA, EPILEPSY, AND EYE ABNORMALITIES (OMIM:618493)
Association type: MENDELIAN
Gene: P4HTM
Disease: HIDEA syndrome; Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome (ORPHA:436141)
Association type: UNKNOWN
Gene: IL2RB
Disease: IMMUNODEFICIENCY 63 WITH LYMPHOPROLIFERATION AND AUTOIMMUNITY (OMIM:618495)
Association type: MENDELIAN
Gene: IL2RB
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: IL2RB
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: FGF12
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 47 (OMIM:617166)
Association type: MENDELIAN
Gene: FGF12
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: GYS2
Disease: GLYCOGEN STORAGE DISEASE 0, LIVER (OMIM:240600)
Association type: MENDELIAN
Gene: GYS2
Disease: Glycogen storage disease due to hepatic glycogen synthase deficiency; GSD due to hepatic glycogen synthase deficiency; GSD type 0a; Glycogen storage disease due to liver glycogen synthase deficiency; Glycogen storage disease type 0a; Glycogenosis type 0a (ORPHA:2089)
Association type: UNKNOWN
Gene: CRYBB2
Disease: CATARACT 3, MULTIPLE TYPES (OMIM:601547)
Association type: MENDELIAN
Gene: CRYBB2
Disease: Cataract-microcornea syndrome (ORPHA:1377)
Association type: UNKNOWN
Gene: CRYBB2
Disease: Early-onset posterior subcapsular cataract (ORPHA:441447)
Association type: UNKNOWN
Gene: CRYBB2
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: CRYBB2
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYBB2
Disease: Cerulean cataract; Blue-dot cataract (ORPHA:98989)
Association type: UNKNOWN
Gene: CRYBB2
Disease: Pulverulent cataract; Coppock-like cataract; Dusty cataract (ORPHA:98984)
Association type: UNKNOWN
Gene: CRYBB2
Disease: Early-onset sutural cataract; Early-onset cataract with Y-shaped suture opacities (ORPHA:98985)
Association type: UNKNOWN
Gene: GNB5
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA (OMIM:617173)
Association type: MENDELIAN
Gene: GNB5
Disease: LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA (OMIM:617182)
Association type: MENDELIAN
Gene: GNB5
Disease: GNB5-related intellectual disability-cardiac arrhythmia syndrome (ORPHA:542306)
Association type: UNKNOWN
Gene: RPL26
Disease: DIAMOND-BLACKFAN ANEMIA 11 (OMIM:614900)
Association type: MENDELIAN
Gene: RPL26
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: SPINT2
Disease: DIARRHEA 3, SECRETORY SODIUM, CONGENITAL, WITH OR WITHOUT OTHER CONGENITAL ANOMALIES (OMIM:270420)
Association type: MENDELIAN
Gene: SPINT2
Disease: Syndromic congenital sodium diarrhea; Syndromic congenital tufting enteropathy (ORPHA:563708)
Association type: UNKNOWN
Gene: SUN5
Disease: SPERMATOGENIC FAILURE 16 (OMIM:617187)
Association type: MENDELIAN
Gene: SUN5
Disease: Male infertility due to acephalic spermatozoa; Acephalic spermatozoa syndrome (ORPHA:529970)
Association type: UNKNOWN
Gene: NAXE
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 1 (OMIM:617186)
Association type: MENDELIAN
Gene: NAXE
Disease: NAD(P)HX epimerase deficiency; Apolipoprotein A-I binding protein deficiency (ORPHA:555407)
Association type: UNKNOWN
Gene: HOXA1
Disease: ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME (OMIM:601536)
Association type: MENDELIAN
Gene: HOXA1
Disease: Bosley-Salih-Alorainy syndrome (ORPHA:69737)
Association type: UNKNOWN
Gene: HOXA1
Disease: Athabaskan brainstem dysgenesis syndrome; ABSD; Athabascan brainstem dysgenesis syndrome; Navajo brainstem syndrome (ORPHA:69739)
Association type: UNKNOWN
Gene: POF1B
Disease: PREMATURE OVARIAN FAILURE 2B (OMIM:300604)
Association type: MENDELIAN
Gene: MBOAT7
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 57 (OMIM:617188)
Association type: MENDELIAN
Gene: MBOAT7
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: AHSG
Disease: ALOPECIA-MENTAL RETARDATION SYNDROME 1 (OMIM:203650)
Association type: MENDELIAN
Gene: AHSG
Disease: Alopecia-intellectual disability syndrome; Perniola-Krajewska-Carnevale syndrome (ORPHA:2850)
Association type: UNKNOWN
Gene: ASXL2
Disease: SHASHI-PENA SYNDROME (OMIM:617190)
Association type: MENDELIAN
Gene: ASXL2
Disease: Shashi-Pena syndrome (ORPHA:689408)
Association type: UNKNOWN
Gene: GLDN
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 11 (OMIM:617194)
Association type: MENDELIAN
Gene: GLDN
Disease: Fetal akinesia deformation sequence; Arthrogryposis multiplex congenita-pulmonary hypoplasia syndrome; FADS; Pena-Shokeir syndrome type 1 (ORPHA:994)
Association type: UNKNOWN
Gene: TBCD
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM (OMIM:617193)
Association type: MENDELIAN
Gene: TBCD
Disease: Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome (ORPHA:496641)
Association type: UNKNOWN
Gene: FANCD2
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP D2 (OMIM:227646)
Association type: MENDELIAN
Gene: FANCD2
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: PHF6
Disease: BORJESON-FORSSMAN-LEHMANN SYNDROME (OMIM:301900)
Association type: MENDELIAN
Gene: PHF6
Disease: Borjeson-Forssman-Lehmann syndrome; BFLS; Intellectual disability-epilepsy-endocrine disorders syndrome (ORPHA:127)
Association type: UNKNOWN
Gene: PGM1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE It (OMIM:614921)
Association type: MENDELIAN
Gene: PGM1
Disease: PGM1-CDG; CDG syndrome type It; CDG-It; CDG1T; Congenital disorder of glycosylation type 1t; Congenital disorder of glycosylation type It; PGM1-related congenital disorder of glycosylation; Phosphoglucomutase-1 deficiency (ORPHA:319646)
Association type: UNKNOWN
Gene: RMND1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 11 (OMIM:614922)
Association type: MENDELIAN
Gene: RMND1
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: RMND1
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: RMND1
Disease: Combined oxidative phosphorylation defect type 11; COXPD11 (ORPHA:324535)
Association type: UNKNOWN
Gene: PEX11B
Disease: PEROXISOME BIOGENESIS DISORDER 14B (OMIM:614920)
Association type: MENDELIAN
Gene: PEX11B
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX11B
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX11B
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: HARS2
Disease: PERRAULT SYNDROME 2 (OMIM:614926)
Association type: MENDELIAN
Gene: HARS2
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN