TaoMedAI/RareMedData huggingface dataset:
Gene: ZNRF3
Disease: Adrenocortical carcinoma; ACC (ORPHA:1501)
Association type: UNKNOWN
Gene: NELFA
Disease: Wolf-Hirschhorn syndrome; 4p- syndrome; Distal deletion 4p; Distal monosomy 4p; Telomeric deletion 4p (ORPHA:280)
Association type: UNKNOWN
Gene: SEMA5A
Disease: Monosomy 5p syndrome; Cri du chat syndrome; Deletion 5p (ORPHA:281)
Association type: UNKNOWN
Gene: PODXL
Disease: Young-onset Parkinson disease; Early-onset Parkinson disease; YOPD (ORPHA:2828)
Association type: UNKNOWN
Gene: PODXL
Disease: Atypical juvenile parkinsonism (ORPHA:391411)
Association type: UNKNOWN
Gene: KLHL9
Disease: KLHL9-related early-onset distal myopathy (ORPHA:399081)
Association type: UNKNOWN
Gene: MYH7B
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: PLEKHM2
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: MIB2
Disease: Left ventricular noncompaction; LVNC; Left ventricular hypertrabeculation; Spongy myocardium (ORPHA:54260)
Association type: UNKNOWN
Gene: POLR3H
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: DMRT1
Disease: 46,XY complete gonadal dysgenesis; 46,XY CGD; 46,XY pure gonadal dysgenesis; Swyer syndrome (ORPHA:242)
Association type: UNKNOWN
Gene: RTL1
Disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Association type: UNKNOWN
Gene: RTL1
Disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Association type: UNKNOWN
Gene: RTL1
Disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Association type: UNKNOWN
Gene: RTL1
Disease: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion; Maternal del(14)(q32.2); Maternal monosomy 14q32.2 (ORPHA:254528)
Association type: UNKNOWN
Gene: RTL1
Disease: Temple syndrome due to maternal uniparental disomy of chromosome 14; UPD(14)mat (ORPHA:96184)
Association type: UNKNOWN
Gene: RTL1
Disease: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14; UPD(14)pat (ORPHA:96334)
Association type: UNKNOWN
Gene: DLK1
Disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Association type: UNKNOWN
Gene: DLK1
Disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Association type: UNKNOWN
Gene: DLK1
Disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Association type: UNKNOWN
Gene: DLK1
Disease: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion; Maternal del(14)(q32.2); Maternal monosomy 14q32.2 (ORPHA:254528)
Association type: UNKNOWN
Gene: DLK1
Disease: Temple syndrome due to maternal uniparental disomy of chromosome 14; UPD(14)mat (ORPHA:96184)
Association type: UNKNOWN
Gene: DLK1
Disease: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14; UPD(14)pat (ORPHA:96334)
Association type: UNKNOWN
Gene: DLK1
Disease: Genetic central precocious puberty in male; Genetic CPP in boy; Genetic CPP in male; Genetic central precocious puberty in boy (ORPHA:650097)
Association type: UNKNOWN
Gene: DLK1
Disease: Genetic central precocious puberty in female; Genetic CPP in female; Genetic CPP in girl; Genetic central precocious puberty in girl (ORPHA:650077)
Association type: UNKNOWN
Gene: MEG3
Disease: Temple syndrome due to paternal 14q32.2 hypomethylation (ORPHA:254531)
Association type: UNKNOWN
Gene: MEG3
Disease: Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation (ORPHA:254534)
Association type: UNKNOWN
Gene: MEG3
Disease: Temple syndrome due to paternal 14q32.2 microdeletion; Paternal del(14)(q32.2) (ORPHA:254525)
Association type: UNKNOWN
Gene: MEG3
Disease: Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion; Maternal del(14)(q32.2); Maternal monosomy 14q32.2 (ORPHA:254528)
Association type: UNKNOWN
Gene: MEG3
Disease: Temple syndrome due to maternal uniparental disomy of chromosome 14; UPD(14)mat (ORPHA:96184)
Association type: UNKNOWN
Gene: MEG3
Disease: Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14; UPD(14)pat (ORPHA:96334)
Association type: UNKNOWN
Gene: MUCL3
Disease: Diffuse panbronchiolitis (ORPHA:171700)
Association type: UNKNOWN
Gene: EOMES
Disease: Microcephaly-polymicrogyria-corpus callosum agenesis syndrome (ORPHA:171703)
Association type: UNKNOWN
Gene: PICK1
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: GOPC
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: ATF1
Disease: Melanoma of soft tissue; Clear cell sarcoma of the tendons and aponeuroses (ORPHA:97338)
Association type: UNKNOWN
Gene: USF3
Disease: Cowden syndrome; Cowden disease; Multiple hamartoma syndrome (ORPHA:201)
Association type: UNKNOWN
Gene: COL14A1
Disease: Punctate palmoplantar keratoderma type 1; Buschke-Fischer-Brauer syndrome; Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type; PPKP1 (ORPHA:79501)
Association type: UNKNOWN
Gene: MLX
Disease: Takayasu arteritis (ORPHA:3287)
Association type: UNKNOWN
Gene: SSX2
Disease: Synovial sarcoma; Synovialosarcoma (ORPHA:3273)
Association type: UNKNOWN
Gene: SS18
Disease: Synovial sarcoma; Synovialosarcoma (ORPHA:3273)
Association type: UNKNOWN
Gene: EPHX1
Disease: Familial hypercholanemia; Hereditary hypercholanemia (ORPHA:238475)
Association type: UNKNOWN
Gene: MAP3K6
Disease: Hereditary diffuse gastric cancer; FDGC; Familial diffuse cancer of stomach; Familial diffuse gastric cancer; HDGC; Hereditary diffuse cancer of stomach; Hereditary diffuse gastric adenocarcinoma (ORPHA:26106)
Association type: UNKNOWN
Gene: NTRK3
Disease: Fibrosarcoma (ORPHA:2030)
Association type: UNKNOWN
Gene: NTRK3
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: NTRK3
Disease: Congenital mesoblastic nephroma (ORPHA:2665)
Association type: UNKNOWN
Gene: FAM13A
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: CYP7A1
Disease: Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency (ORPHA:209902)
Association type: UNKNOWN
Gene: IGH
Disease: Mantle cell lymphoma; LCM; MCL; Mantle zone lymphoma (ORPHA:52416)
Association type: UNKNOWN
Gene: IGH
Disease: MALT lymphoma; Extranodal marginal zone B-cell lymphoma; MALToma; Mucosa-associated lymphatic tissue lymphoma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Association type: UNKNOWN
Gene: IGH
Disease: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3); B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH (ORPHA:585948)
Association type: UNKNOWN
Gene: IGH
Disease: Follicular lymphoma (ORPHA:545)
Association type: UNKNOWN
Gene: BIRC3
Disease: MALT lymphoma; Extranodal marginal zone B-cell lymphoma; MALToma; Mucosa-associated lymphatic tissue lymphoma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Association type: UNKNOWN
Gene: DLEC1
Disease: Squamous cell carcinoma of the esophagus; ESCC; Esophageal epidermoid carcinoma; Esophageal squamous cell carcinoma (ORPHA:99977)
Association type: UNKNOWN
Gene: SH2B1
Disease: Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency (ORPHA:329249)
Association type: UNKNOWN
Gene: SH2B1
Disease: Distal 16p11.2 microdeletion syndrome; Distal del(16)(p11.2); Distal monosomy 16p11.2 (ORPHA:261222)
Association type: UNKNOWN
Gene: SH2B1
Disease: Proximal 16p11.2 microdeletion syndrome; Proximal del(16)(p11.2); Proximal monosomy 16p11.2 (ORPHA:261197)
Association type: UNKNOWN
Gene: DDIT3
Disease: Myxoid/round cell liposarcoma; MRCLS (ORPHA:99967)
Association type: UNKNOWN
Gene: IGHG2
Disease: Recurrent infections associated with rare immunoglobulin isotypes deficiency; IgG subclass deficiency with IgA subclass deficiency; Isolated IgG subclass deficiency; Kappa-chain deficiency; Selective IgG subclass deficiency (ORPHA:183675)
Association type: UNKNOWN
Gene: HLF
Disease: B-lymphoblastic leukemia/lymphoma with t(17;19) (ORPHA:641375)
Association type: UNKNOWN
Gene: WDR48
Disease: Autosomal recessive spastic paraplegia type 60; SPG60 (ORPHA:401800)
Association type: UNKNOWN
Gene: AKAP4
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: ARSI
Disease: Autosomal recessive spastic paraplegia type 66; SPG66 (ORPHA:401815)
Association type: UNKNOWN
Gene: TMPRSS4
Disease: Autosomal recessive cerebral atrophy (ORPHA:363969)
Association type: UNKNOWN
Gene: HELLPAR
Disease: HELLP syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; Hemolysis-elevated liver enzymes-low platelets syndrome (ORPHA:244242)
Association type: UNKNOWN
Gene: SNAI2
Disease: Piebaldism (ORPHA:2884)
Association type: UNKNOWN
Gene: SNAI2
Disease: Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II (ORPHA:895)
Association type: UNKNOWN
Gene: ARL6IP6
Disease: Cutis marmorata telangiectatica congenita; CMTC (ORPHA:1556)
Association type: UNKNOWN
Gene: ZFR
Disease: Autosomal recessive spastic paraplegia type 71; SPG71 (ORPHA:401840)
Association type: UNKNOWN
Gene: FHL2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: TAF1A
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: TMPO
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: ATP4A
Disease: Familial gastric type 1 neuroendocrine tumor (ORPHA:464756)
Association type: UNKNOWN
Gene: GAS8-AS1
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: TRIM24
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: DIRC3
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: DIRC3
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: TRIM27
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: NCOA4
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: EIF1AX
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: TRIM33
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: TRIM33
Disease: Dislocation of the hip-dysmorphism syndrome; Collins-Pope syndrome (ORPHA:2412)
Association type: UNKNOWN
Gene: ERC1
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: ERC1
Disease: Distal deletion 12p syndrome; 12p13.33 microdeletion syndrome; Del(12)(p13.33); Distal monosomy 12p (ORPHA:280325)
Association type: UNKNOWN
Gene: GOLGA5
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: LPAR4
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: CCDC6
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: PCM1
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: GPR35
Disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Association type: UNKNOWN
Gene: SEMA4D
Disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Association type: UNKNOWN
Gene: MST1
Disease: Primary sclerosing cholangitis; PSC (ORPHA:171)
Association type: UNKNOWN
Gene: SMARCA5
Disease: Extraskeletal Ewing sarcoma; EOE; Extraosseous Ewing sarcoma; Extraosseous Ewing tumor; Extraskeletal Ewing tumor (ORPHA:370334)
Association type: UNKNOWN
Gene: ISL1
Disease: Bladder exstrophy; Classic exstrophy of the bladder (ORPHA:93930)
Association type: UNKNOWN
Gene: ZFTA
Disease: RELA fusion-positive ependymoma; Supratentorial C11ORF95-RELA fused ependymoma (ORPHA:530792)
Association type: UNKNOWN
Gene: ZFTA
Disease: Ependymoma; Classic ependymoma (ORPHA:251636)
Association type: UNKNOWN
Gene: SCLT1
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: HLA-DPB1
Disease: Chronic beryllium disease; Berylliosis; Chronic berylliosis; Chronic beryllium lung disease (ORPHA:133)
Association type: UNKNOWN
Gene: HLA-DPB1
Disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Association type: UNKNOWN
Gene: KCNE5
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: KCNE5
Disease: Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome; AMME complex; AMME syndrome; ATS-MR (ORPHA:86818)
Association type: UNKNOWN
Gene: SLMAP
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: RPS20
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: RPS20
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: RPL8
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: RPL31
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: RPL9
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: CCR1
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: IL12A
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: IL12A
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: IL12A-AS1
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: TLR4
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: UBAC2
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: ERAP1
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: KLRC4
Disease: Behçet disease (ORPHA:117)
Association type: UNKNOWN
Gene: CRH
Disease: Autosomal dominant nocturnal frontal lobe epilepsy; ADNFLE; Autosomal dominant sleep-related hypermotor epilepsy (ORPHA:98784)
Association type: UNKNOWN
Gene: GRB10
Disease: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7; UPD(7)mat (ORPHA:96182)
Association type: UNKNOWN
Gene: ANKRD55
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: ANKRD55
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: PTPN2
Disease: Oligoarticular juvenile idiopathic arthritis; Oligoarticular JIA; Pauciarticular chronic arthritis (ORPHA:85410)
Association type: UNKNOWN
Gene: PTPN2
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: RNF135
Disease: Overgrowth-macrocephaly-facial dysmorphism syndrome (ORPHA:137634)
Association type: UNKNOWN
Gene: FCGR2C
Disease: Immune thrombocytopenia; ITP; Immune thrombocytopenic purpura (ORPHA:3002)
Association type: UNKNOWN
Gene: IFRD1
Disease: Spinocerebellar ataxia type 18; SCA18 (ORPHA:98771)
Association type: UNKNOWN
Gene: PLEKHG4
Disease: Spinocerebellar ataxia type 4; SCA4 (ORPHA:98765)
Association type: UNKNOWN
Gene: SAA1
Disease: AA amyloidosis; Inflammatory amyloidosis; Reactive amyloidosis (ORPHA:85445)
Association type: UNKNOWN
Gene: MACROH2A1
Disease: Brachydactyly-elbow wrist dysplasia syndrome; Brachydactyly-joint dysplasia syndrome; Liebenberg syndrome (ORPHA:1275)
Association type: UNKNOWN
Gene: MT-TE
Disease: Myopathy and diabetes mellitus (ORPHA:2596)
Association type: UNKNOWN
Gene: MT-TE
Disease: Mitochondrial myopathy with reversible cytochrome C oxidase deficiency; Benign COX deficiency; Infantile reversible cytochrome C oxidase deficiency myopathy; Mitochondrial myopathy with reversible COX deficiency; Mitochondrial myopathy with reversible complex IV deficiency; Reversible infantile cytochrome C oxidase deficiency; Reversible infantile respiratory chain deficiency (ORPHA:254864)
Association type: UNKNOWN
Gene: GPKOW
Disease: Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome; Morse-Rawnsley-Sargent syndrome (ORPHA:2570)
Association type: UNKNOWN
Gene: DNAJB1
Disease: Fibrolamellar hepatocellular carcinoma; FHCC; Fibrolamellar hepatocarcinoma (ORPHA:401920)
Association type: UNKNOWN
Gene: PIP4K2A
Disease: B-lymphoblastic leukemia/lymphoma with hyperdiploidy (ORPHA:585936)
Association type: UNKNOWN
Gene: SPIB
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: POU2AF1
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: TNFSF15
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: MMEL1
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: EDA2R
Disease: X-linked hypohidrotic ectodermal dysplasia; Christ-Siemens-Touraine syndrome; X-linked anhidrotic ectodermal dysplasia; XHED (ORPHA:181)
Association type: UNKNOWN
Gene: MCM7
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: SIN3B
Disease: SIN3-related intellectual disability syndrome due to a point mutation (ORPHA:500166)
Association type: UNKNOWN
Gene: KEAP1
Disease: Familial multinodular goiter; FMNG; Familial MNG; Familial multinodular goiter syndrome (ORPHA:276399)
Association type: UNKNOWN
Gene: MT-ND3
Disease: Isolated complex I deficiency; Isolated NADH-CoQ reductase deficiency; Isolated NADH-coenzyme Q reductase deficiency; Isolated NADH-ubiquinone reductase deficiency; Isolated mitochondrial respiratory chain complex I deficiency (ORPHA:2609)
Association type: UNKNOWN
Gene: MT-ND3
Disease: Mitochondrial DNA-associated Leigh syndrome; MILS; Maternally-inherited Leigh disease; Maternally-inherited infantile subacute necrotizing encephalopathy; mtDNA-associated Leigh syndrome (ORPHA:255210)
Association type: UNKNOWN
Gene: MT-ND3
Disease: Leber plus disease; LHON plus disease (ORPHA:99718)
Association type: UNKNOWN
Gene: TRANK1
Disease: Kleine-Levin syndrome (ORPHA:33543)
Association type: UNKNOWN
Gene: ZFHX4
Disease: Congenital ptosis (ORPHA:91411)
Association type: UNKNOWN
Gene: YWHAE
Disease: 17p13.3 microduplication syndrome; 17p13.3 duplication syndrome; Dup(17)(p13.3); Trisomy 17p13.3 (ORPHA:217385)
Association type: UNKNOWN
Gene: YWHAE
Disease: Endometrial stromal sarcoma; Stromal sarcoma of the corpus uteri (ORPHA:213711)
Association type: UNKNOWN
Gene: YWHAE
Disease: Distal 17p13.3 microdeletion syndrome; Distal del(17)(p13.3 ); Distal monosomy 17p13.3 (ORPHA:261257)
Association type: UNKNOWN
Gene: YWHAE
Disease: Miller-Dieker syndrome; Lissencephaly due to 17p13.3 deletion; Monosomy 17p13.3; Telomeric deletion 17p (ORPHA:531)
Association type: UNKNOWN
Gene: YWHAE
Disease: Clear cell sarcoma of kidney; CCSK (ORPHA:457246)
Association type: UNKNOWN
Gene: ZIC4
Disease: Isolated Dandy-Walker malformation with hydrocephalus (ORPHA:269212)
Association type: UNKNOWN
Gene: ZIC4
Disease: Isolated Dandy-Walker malformation without hydrocephalus (ORPHA:269215)
Association type: UNKNOWN
Gene: NID1
Disease: Isolated Dandy-Walker malformation without hydrocephalus (ORPHA:269215)
Association type: UNKNOWN
Gene: TNK2
Disease: Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression (ORPHA:391316)
Association type: UNKNOWN
Gene: NTNG1
Disease: Atypical Rett syndrome; Atypical RTT; Rett syndrome variant (ORPHA:3095)
Association type: UNKNOWN
Gene: NTNG1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: EEF1B2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: CLIP1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: EZR
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: CNGA2
Disease: Isolated congenital anosmia (ORPHA:88620)
Association type: UNKNOWN
Gene: TENM1
Disease: Isolated congenital anosmia (ORPHA:88620)
Association type: UNKNOWN
Gene: FBLN7
Disease: 2q13 microdeletion syndrome; del2q13 syndrome (ORPHA:684742)
Association type: UNKNOWN
Gene: TMEM87B
Disease: 2q13 microdeletion syndrome; del2q13 syndrome (ORPHA:684742)
Association type: UNKNOWN
Gene: CD109
Disease: Fetal and neonatal alloimmune thrombocytopenia; FNAIT; NAIT (ORPHA:853)
Association type: UNKNOWN
Gene: BDNF
Disease: WAGR syndrome; Del(11)(p13); Deletion 11p13; Monosomy 11p13; Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome (ORPHA:893)
Association type: UNKNOWN
Gene: BDNF
Disease: Congenital central hypoventilation syndrome; CCHS; Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome (ORPHA:661)
Association type: UNKNOWN
Gene: SIRT6
Disease: Lethal brain and heart developmental defects (ORPHA:580933)
Association type: UNKNOWN
Gene: SRSF2
Disease: Aggressive systemic mastocytosis (ORPHA:98850)
Association type: UNKNOWN
Gene: SRSF2
Disease: Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD; Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (ORPHA:98849)
Association type: UNKNOWN
Gene: SRSF2
Disease: Chronic myelomonocytic leukemia; CMML (ORPHA:98823)
Association type: UNKNOWN
Gene: IPMK
Disease: Hereditary neuroendocrine tumor of small intestine; Hereditary SB-NET; Hereditary SI-NET; Hereditary neuroendocrine tumor of small bowel; Small bowel hereditary neuroendocrine tumor; Small intestine hereditary neuroendocrine tumor (ORPHA:456333)
Association type: UNKNOWN