TaoMedAI/RareMedData huggingface dataset:
Gene: PIKFYVE
Disease: Fleck corneal dystrophy; FCD; François-Neetens speckled corneal dystrophy (ORPHA:98970)
Association type: UNKNOWN
Gene: TPR
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 79 (OMIM:620393)
Association type: MENDELIAN
Gene: TPR
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: TPR
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: FLG2
Disease: PEELING SKIN SYNDROME 6 (OMIM:618084)
Association type: MENDELIAN
Gene: FLG2
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: RHAG
Disease: OVERHYDRATED HEREDITARY STOMATOCYTOSIS (OMIM:185000)
Association type: MENDELIAN
Gene: RHAG
Disease: RH-NULL, REGULATOR TYPE (OMIM:268150)
Association type: MENDELIAN
Gene: RHAG
Disease: Overhydrated hereditary stomatocytosis (ORPHA:3203)
Association type: UNKNOWN
Gene: RHAG
Disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Association type: UNKNOWN
Gene: FANCM
Disease: SPERMATOGENIC FAILURE 28 (OMIM:618086)
Association type: MENDELIAN
Gene: FANCM
Disease: PREMATURE OVARIAN FAILURE 15 (OMIM:618096)
Association type: MENDELIAN
Gene: FANCM
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: FANCM
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: IRF2BPL
Disease: NEURODEVELOPMENTAL DISORDER WITH REGRESSION, ABNORMAL MOVEMENTS, LOSS OF SPEECH, AND SEIZURES (OMIM:618088)
Association type: MENDELIAN
Gene: IRF2BPL
Disease: IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome (ORPHA:597623)
Association type: UNKNOWN
Gene: FBXO11
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:618089)
Association type: MENDELIAN
Gene: FBXO11
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: KAT6B
Disease: GENITOPATELLAR SYNDROME (OMIM:606170)
Association type: MENDELIAN
Gene: KAT6B
Disease: OHDO SYNDROME, SBBYS VARIANT (OMIM:603736)
Association type: MENDELIAN
Gene: KAT6B
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: KAT6B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KAT6B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KAT6B
Disease: Genitopatellar syndrome; Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome (ORPHA:85201)
Association type: UNKNOWN
Gene: KAT6B
Disease: Blepharophimosis-intellectual disability syndrome, SBBYS type; Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome; SBBYS variant of Ohdo syndrome; SBBYSS; Say-Barber-Biesecker-Young-Simpson syndrome (ORPHA:3047)
Association type: UNKNOWN
Gene: DYRK1B
Disease: ABDOMINAL OBESITY-METABOLIC SYNDROME 3 (OMIM:615812)
Association type: MENDELIAN
Gene: PGM3
Disease: IMMUNODEFICIENCY 23 (OMIM:615816)
Association type: MENDELIAN
Gene: PGM3
Disease: PGM3-CDG; CID due to PGM3 deficiency; Combined immunodeficiency due to PGM3 deficiency; PGM3-related congenital disorder of glycosylation (ORPHA:443811)
Association type: UNKNOWN
Gene: WASHC4
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 43 (OMIM:615817)
Association type: MENDELIAN
Gene: WASHC4
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: STUB1
Disease: SPINOCEREBELLAR ATAXIA 48 (OMIM:618093)
Association type: MENDELIAN
Gene: STUB1
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 16 (OMIM:615768)
Association type: MENDELIAN
Gene: STUB1
Disease: Spinocerebellar ataxia type 48 (ORPHA:631103)
Association type: UNKNOWN
Gene: STUB1
Disease: Autosomal recessive cerebellar ataxia due to STUB1 deficiency; SCAR16; Spinocerebellar ataxia autosomal recessive type 16 (ORPHA:412057)
Association type: UNKNOWN
Gene: LNPK
Disease: NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM (OMIM:618090)
Association type: MENDELIAN
Gene: SPINK2
Disease: SPERMATOGENIC FAILURE 29 (OMIM:618091)
Association type: MENDELIAN
Gene: ABCD1
Disease: ADRENOLEUKODYSTROPHY (OMIM:300100)
Association type: MENDELIAN
Gene: ABCD1
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: ABCD1
Disease: CADDS; Contiguous ABCD1 DXS1357E deletion syndrome; Zellweger-like contiguous gene deletion syndrome (ORPHA:369942)
Association type: UNKNOWN
Gene: ABCD1
Disease: Adrenomyeloneuropathy (ORPHA:139399)
Association type: UNKNOWN
Gene: ABCD1
Disease: X-linked cerebral adrenoleukodystrophy; X-CALD (ORPHA:139396)
Association type: UNKNOWN
Gene: BCL11B
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES (OMIM:618092)
Association type: MENDELIAN
Gene: BCL11B
Disease: IMMUNODEFICIENCY 49 (OMIM:617237)
Association type: MENDELIAN
Gene: BCL11B
Disease: Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome (ORPHA:662829)
Association type: UNKNOWN
Gene: TOP3A
Disease: MICROCEPHALY, GROWTH RESTRICTION, AND INCREASED SISTER CHROMATID EXCHANGE 2 (OMIM:618097)
Association type: MENDELIAN
Gene: TOP3A
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5 (OMIM:618098)
Association type: MENDELIAN
Gene: TOP3A
Disease: Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome (ORPHA:508512)
Association type: UNKNOWN
Gene: MAP3K7
Disease: CARDIOSPONDYLOCARPOFACIAL SYNDROME (OMIM:157800)
Association type: MENDELIAN
Gene: MAP3K7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MAP3K7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MAP3K7
Disease: FRONTOMETAPHYSEAL DYSPLASIA 2 (OMIM:617137)
Association type: MENDELIAN
Gene: MAP3K7
Disease: Cardiospondylocarpofacial syndrome; Forney syndrome; Forney-Robinson-Pascoe syndrome; Mitral regurgitation-deafness-skeletal anomalies syndrome; Mitral regurgitation-hearing loss-skeletal anomalies syndrome (ORPHA:3238)
Association type: UNKNOWN
Gene: MAP3K7
Disease: Frontometaphyseal dysplasia (ORPHA:1826)
Association type: UNKNOWN
Gene: UQCC2
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 7 (OMIM:615824)
Association type: MENDELIAN
Gene: UQCC2
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: TRAPPC2
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA TARDA, X-LINKED (OMIM:313400)
Association type: MENDELIAN
Gene: TRAPPC2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TRAPPC2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TRAPPC2
Disease: Spondyloepiphyseal dysplasia tarda (ORPHA:93284)
Association type: UNKNOWN
Gene: DEAF1
Disease: VULTO-VAN SILFHOUT-DE VRIES SYNDROME (OMIM:615828)
Association type: MENDELIAN
Gene: DEAF1
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND IMPAIRED EXPRESSIVE LANGUAGE AND WITH OR WITHOUT SEIZURES (OMIM:617171)
Association type: MENDELIAN
Gene: DEAF1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: DEAF1
Disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Association type: UNKNOWN
Gene: DEAF1
Disease: Intellectual disability-epilepsy-extrapyramidal syndrome (ORPHA:468620)
Association type: UNKNOWN
Gene: AHDC1
Disease: XIA-GIBBS SYNDROME (OMIM:615829)
Association type: MENDELIAN
Gene: AHDC1
Disease: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome; Xia-Gibbs syndrome (ORPHA:412069)
Association type: UNKNOWN
Gene: RPS28
Disease: DIAMOND-BLACKFAN ANEMIA 15 WITH MANDIBULOFACIAL DYSOSTOSIS (OMIM:606164)
Association type: MENDELIAN
Gene: RPS28
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: AUTS2
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 26 (OMIM:615834)
Association type: MENDELIAN
Gene: AUTS2
Disease: Autism spectrum disorder due to AUTS2 deficiency; ASD due to AUTS2 deficiency; AUTS2 syndrome (ORPHA:352490)
Association type: UNKNOWN
Gene: AUTS2
Disease: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) (ORPHA:641372)
Association type: UNKNOWN
Gene: SNIP1
Disease: PSYCHOMOTOR RETARDATION, EPILEPSY, AND CRANIOFACIAL DYSMORPHISM (OMIM:614501)
Association type: MENDELIAN
Gene: NECAP1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Association type: MENDELIAN
Gene: NECAP1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: LYRM7
Disease: MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8 (OMIM:615838)
Association type: MENDELIAN
Gene: LYRM7
Disease: Isolated complex III deficiency; Isolated CoQ-cytochrome C reductase deficiency; Isolated coenzyme Q-cytochrome C reductase deficiency; Isolated mitochondrial respiratory chain complex III deficiency; Isolated ubiquinone-cytochrome C reductase deficiency (ORPHA:1460)
Association type: UNKNOWN
Gene: DDOST
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ir (OMIM:614507)
Association type: MENDELIAN
Gene: DDOST
Disease: DDOST-CDG; CDG syndrome type Ir; CDG-Ir; CDG1R; Carbohydrate deficient glycoprotein syndrome type Ir; Congenital disorder of glycosylation type 1r; Congenital disorder of glycosylation type Ir (ORPHA:300536)
Association type: UNKNOWN
Gene: CR1
Disease: KNOPS BLOOD GROUP SYSTEM (OMIM:607486)
Association type: MENDELIAN
Gene: CR1
Disease: MALARIA, SUSCEPTIBILITY TO (OMIM:611162)
Association type: POLYGENIC
Gene: UBIAD1
Disease: SCHNYDER CORNEAL DYSTROPHY (OMIM:121800)
Association type: MENDELIAN
Gene: UBIAD1
Disease: Schnyder corneal dystrophy; Crystalline stromal dystrophy; Hereditary crystalline stromal dystrophy of Schnyder; SCCD; SCD; Schnyder crystalline corneal dystrophy; Schnyder crystalline dystrophy sine crystals (ORPHA:98967)
Association type: UNKNOWN
Gene: GRXCR2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 101 (OMIM:615837)
Association type: MENDELIAN
Gene: GRXCR2
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: SLC19A3
Disease: THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 (BIOTIN- OR THIAMINE-RESPONSIVE TYPE) (OMIM:607483)
Association type: MENDELIAN
Gene: SLC19A3
Disease: Thiamine-responsive encephalopathy (ORPHA:199348)
Association type: UNKNOWN
Gene: SLC19A3
Disease: Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome (ORPHA:263410)
Association type: UNKNOWN
Gene: SLC19A3
Disease: Biotin-thiamine-responsive basal ganglia disease; BBGD; BTBGD; Biotin-responsive basal ganglia disease (ORPHA:65284)
Association type: UNKNOWN
Gene: TAF4B
Disease: SPERMATOGENIC FAILURE 13 (OMIM:615841)
Association type: MENDELIAN
Gene: TAF4B
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: ZMYND15
Disease: SPERMATOGENIC FAILURE 14 (OMIM:615842)
Association type: MENDELIAN
Gene: ZMYND15
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: PROS1
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:614514)
Association type: MENDELIAN
Gene: PROS1
Disease: THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:612336)
Association type: MENDELIAN
Gene: PROS1
Disease: Severe hereditary thrombophilia due to congenital protein S deficiency; Autosomal recessive thrombophilia due to congenital protein S deficiency (ORPHA:743)
Association type: UNKNOWN
Gene: COL4A2
Disease: HEMORRHAGE, INTRACEREBRAL, SUSCEPTIBILITY TO (OMIM:614519)
Association type: POLYGENIC
Gene: COL4A2
Disease: BRAIN SMALL VESSEL DISEASE 2 (OMIM:614483)
Association type: MENDELIAN
Gene: COL4A2
Disease: Familial porencephaly (ORPHA:99810)
Association type: UNKNOWN
Gene: COL4A2
Disease: COL4A1/2-related familial vascular leukoencephalopathy; COL4A-related brain small vessel disease with hemorrhage; COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome (ORPHA:36383)
Association type: UNKNOWN
Gene: POT1
Disease: MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 10 (OMIM:615848)
Association type: MENDELIAN
Gene: POT1
Disease: CEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS 3 (OMIM:620368)
Association type: MENDELIAN
Gene: POT1
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8 (OMIM:620367)
Association type: MENDELIAN
Gene: POT1
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: POT1
Disease: B-cell chronic lymphocytic leukemia; B-CLL; B-cell chronic lymphoid leukemia; CLL; CLL/SLL; Chronic lymphocytic leukemia; Small lymphocytic lymphoma (ORPHA:67038)
Association type: UNKNOWN
Gene: POT1
Disease: Oligodendroglioma (ORPHA:251627)
Association type: UNKNOWN
Gene: POT1
Disease: Anaplastic oligodendroglioma (ORPHA:251630)
Association type: UNKNOWN
Gene: CA2
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 3 (OMIM:259730)
Association type: MENDELIAN
Gene: CA2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CA2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CA2
Disease: Osteopetrosis with renal tubular acidosis; Carbonic anhydrase 2 deficiency; Guibaud-Vainsel syndrome; Marble brain disease; Mixed RTA; Mixed renal tubular acidosis; Renal tubular acidosis type 3 (ORPHA:2785)
Association type: UNKNOWN
Gene: DPM1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ie (OMIM:608799)
Association type: MENDELIAN
Gene: DPM1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DPM1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DPM1
Disease: DPM1-CDG; CDG syndrome type Ie; CDG-Ie; CDG1E; Carbohydrate deficient glycoprotein syndrome type Ie; Congenital disorder of glycosylation type 1e; Congenital disorder of glycosylation type Ie; Dol-P-mannosyltransferase deficiency (ORPHA:79322)
Association type: UNKNOWN
Gene: SKIC3
Disease: TRICHOHEPATOENTERIC SYNDROME 1 (OMIM:222470)
Association type: MENDELIAN
Gene: SKIC3
Disease: Syndromic diarrhea; Phenotypic diarrhea; SD/THE; Syndromic diarrhea/Tricho-hepato-enteric syndrome; Tricho-hepato-enteric syndrome; Trichohepatoenteric syndrome (ORPHA:84064)
Association type: UNKNOWN
Gene: VPS53
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2E (OMIM:615851)
Association type: MENDELIAN
Gene: VPS53
Disease: Progressive cerebello-cerebral atrophy; PCCA (ORPHA:247198)
Association type: UNKNOWN
Gene: EZH2
Disease: WEAVER SYNDROME (OMIM:277590)
Association type: MENDELIAN
Gene: EZH2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EZH2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EZH2
Disease: Weaver syndrome; EZH2-related overgrowth syndrome; Syndrome d'hypercroissance associé à EZH2 (ORPHA:3447)
Association type: UNKNOWN
Gene: DOCK7
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 23 (OMIM:615859)
Association type: MENDELIAN
Gene: DOCK7
Disease: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome; Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome (ORPHA:411986)
Association type: UNKNOWN
Gene: OSTM1
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 5 (OMIM:259720)
Association type: MENDELIAN
Gene: OSTM1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: OSTM1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: OSTM1
Disease: Infantile osteopetrosis with neuroaxonal dysplasia (ORPHA:85179)
Association type: UNKNOWN
Gene: AQP3
Disease: GIL BLOOD GROUP (OMIM:607457)
Association type: MENDELIAN
Gene: DNAJC5
Disease: CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT (OMIM:162350)
Association type: MENDELIAN
Gene: DNAJC5
Disease: CLN4 disease; CLN4B disease; Neuronal ceroid lipofuscinosis type 4 (ORPHA:228343)
Association type: UNKNOWN
Gene: ANKRD11
Disease: KBG SYNDROME (OMIM:148050)
Association type: MENDELIAN
Gene: ANKRD11
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ANKRD11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ANKRD11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ANKRD11
Disease: KBG syndrome; ANKRD11-related disorder; Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome (ORPHA:2332)
Association type: UNKNOWN
Gene: ANKRD11
Disease: 16q24.3 microdeletion syndrome; Del(16)(q24.3); Monosomy 16q24.3 (ORPHA:261250)
Association type: UNKNOWN
Gene: DGAT1
Disease: DIARRHEA 7, PROTEIN-LOSING ENTEROPATHY TYPE (OMIM:615863)
Association type: MENDELIAN
Gene: DGAT1
Disease: Congenital chronic diarrhea with protein-losing enteropathy; Congenital chronic diarrhea with exudative enteropathy (ORPHA:329242)
Association type: UNKNOWN
Gene: EMP2
Disease: NEPHROTIC SYNDROME, TYPE 10 (OMIM:615861)
Association type: MENDELIAN
Gene: EMP2
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: CEP83
Disease: NEPHRONOPHTHISIS 18 (OMIM:615862)
Association type: MENDELIAN
Gene: CEP83
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: ITGA7
Disease: MUSCULAR DYSTROPHY, CONGENITAL, DUE TO INTEGRIN ALPHA-7 DEFICIENCY (OMIM:613204)
Association type: MENDELIAN
Gene: ITGA7
Disease: Congenital muscular dystrophy with integrin alpha-7 deficiency; Congenital muscular dystrophy with ITGA7 deficiency (ORPHA:34520)
Association type: UNKNOWN
Gene: ITGA7
Disease: Congenital fiber-type disproportion myopathy; CFTDM (ORPHA:2020)
Association type: UNKNOWN
Gene: SOX11
Disease: COFFIN-SIRIS SYNDROME 9 (OMIM:615866)
Association type: MENDELIAN
Gene: SOX11
Disease: Coffin-Siris syndrome; CSS (ORPHA:1465)
Association type: UNKNOWN
Gene: TMEM240
Disease: SPINOCEREBELLAR ATAXIA 21 (OMIM:607454)
Association type: MENDELIAN
Gene: TMEM240
Disease: Spinocerebellar ataxia type 21; SCA21 (ORPHA:98773)
Association type: UNKNOWN
Gene: CCDC50
Disease: DEAFNESS, AUTOSOMAL DOMINANT 44 (OMIM:607453)
Association type: MENDELIAN
Gene: CCDC50
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: PDP1
Disease: PYRUVATE DEHYDROGENASE PHOSPHATASE DEFICIENCY (OMIM:608782)
Association type: MENDELIAN
Gene: PDP1
Disease: Pyruvate dehydrogenase phosphatase deficiency; PDH phosphatase deficiency (ORPHA:79246)
Association type: UNKNOWN
Gene: SLC5A2
Disease: RENAL GLUCOSURIA (OMIM:233100)
Association type: MENDELIAN
Gene: SLC5A2
Disease: Familial renal glucosuria; Familial renal glycosuria; SGLT2 deficiency (ORPHA:69076)
Association type: UNKNOWN
Gene: TNFSF11
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 2 (OMIM:259710)
Association type: MENDELIAN
Gene: TNFSF11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TNFSF11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TNFSF11
Disease: Autosomal recessive malignant osteopetrosis; Infantile malignant osteopetrosis (ORPHA:667)
Association type: UNKNOWN
Gene: COG7
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIe (OMIM:608779)
Association type: MENDELIAN
Gene: COG7
Disease: COG7-CDG; CDG syndrome type IIe; CDG-IIe; CDG2E; Carbohydrate deficient glycoprotein syndrome type IIe; Congenital disorder of glycosylation type 2e; Congenital disorder of glycosylation type IIe (ORPHA:79333)
Association type: UNKNOWN
Gene: UCP2
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 4 (OMIM:607447)
Association type: POLYGENIC
Gene: UCP2
Disease: Hyperinsulinism due to UCP2 deficiency; Hyperinsulinemic hypoglycemia due to UCP2 deficiency (ORPHA:276556)
Association type: UNKNOWN
Gene: HCN1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 24 (OMIM:615871)
Association type: MENDELIAN
Gene: HCN1
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 10 (OMIM:618482)
Association type: MENDELIAN
Gene: HCN1
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: HCN1
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: WDR72
Disease: AMELOGENESIS IMPERFECTA, HYPOMATURATION TYPE, IIA3 (OMIM:613211)
Association type: MENDELIAN
Gene: WDR72
Disease: Hypomaturation amelogenesis imperfecta; Amelogenesis imperfecta type 2 (ORPHA:100033)
Association type: UNKNOWN
Gene: WDR72
Disease: Autosomal recessive distal renal tubular acidosis; AR dRTA; Autosomal recessive distal RTA (ORPHA:402041)
Association type: UNKNOWN
Gene: CCNO
Disease: CILIARY DYSKINESIA, PRIMARY, 29 (OMIM:615872)
Association type: MENDELIAN
Gene: CCNO
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ADNP
Disease: HELSMOORTEL-VAN DER AA SYNDROME (OMIM:615873)
Association type: MENDELIAN
Gene: ADNP
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ADNP
Disease: ADNP syndrome; ADNP-related syndromic intellectual disability-autism spectrum disorder; HVDAS; Helsmoortel-Van Der Aa Syndrome (ORPHA:404448)
Association type: UNKNOWN
Gene: TJP2
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 4 (OMIM:615878)
Association type: MENDELIAN
Gene: TJP2
Disease: HYPERCHOLANEMIA, FAMILIAL 1 (OMIM:607748)
Association type: MENDELIAN
Gene: TJP2
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