TaoMedAI/RareMedData huggingface dataset:
Gene: XPO1
Disease: Primary mediastinal large B-cell lymphoma; Large cell lymphoma of the mediastinum; Med-DLBCL; Mediastinal diffuse large-cell lymphoma with sclerosis; Primary mediastinal clear cell lymphoma of B-cell type (ORPHA:98838)
Association type: UNKNOWN
Gene: NOS1
Disease: Idiopathic achalasia; Achalasia cardia; Idiopathic achalasia of esophagus; Primary achalasia (ORPHA:930)
Association type: UNKNOWN
Gene: STX1A
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: STX1A
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CLIP2
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: RFC2
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: GTF2I
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: LIMK1
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: GTF2IRD1
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: VPS37D
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: METTL27
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: BUD23
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: EIF4H
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: GTF2IRD2
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: TBL2
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: TMEM270
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: BAZ1B
Disease: Williams syndrome; Deletion 7q11.23; Monosomy 7q11.23; Williams-Beuren syndrome (ORPHA:904)
Association type: UNKNOWN
Gene: PRTN3
Disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Association type: UNKNOWN
Gene: HLA-DPA1
Disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Association type: UNKNOWN
Gene: ALPI
Disease: ALPI-related inflammatory bowel disease (ORPHA:597887)
Association type: UNKNOWN
Gene: C8G
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: CBFA2T3
Disease: Acute megakaryoblastic leukemia in children without Down syndrome; Acute megakaryoblastic leukemia in children without trisomy 21; Non-DS-AMKL (ORPHA:329469)
Association type: UNKNOWN
Gene: MYF6
Disease: Autosomal dominant centronuclear myopathy; AD-CNM (ORPHA:169189)
Association type: UNKNOWN
Gene: JMJD1C
Disease: Germinoma of the central nervous system (ORPHA:91352)
Association type: UNKNOWN
Gene: JMJD1C
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: ADRA2B
Disease: Benign adult familial myoclonic epilepsy; ADCME; Autosomal dominant cortical myoclonus and epilepsy; BAFME; Benign adult familial myoclonus epilepsy; FAME; FCMTE; Familial adult myoclonic epilepsy; Familial cortical myoclonic tremor and epilepsy (ORPHA:86814)
Association type: UNKNOWN
Gene: UPK3A
Disease: Renal agenesis, unilateral (ORPHA:93100)
Association type: UNKNOWN
Gene: DKK1
Disease: Arnold-Chiari malformation type I; Arnold-Chiari malformation type 1; Chiari malformation type 1; Chiari malformation type I (ORPHA:268882)
Association type: UNKNOWN
Gene: DKK1
Disease: Idiopathic juvenile osteoporosis; IJO; Juvenile osteoporosis (ORPHA:85193)
Association type: UNKNOWN
Gene: MAT2A
Disease: Familial thoracic aortic aneurysm and aortic dissection; Familial TAAD; Familial non-syndromic thoracic aortic aneurysm and aortic dissection (ORPHA:91387)
Association type: UNKNOWN
Gene: UBAP1L
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: NUTM2A
Disease: Endometrial stromal sarcoma; Stromal sarcoma of the corpus uteri (ORPHA:213711)
Association type: UNKNOWN
Gene: JAZF1
Disease: Endometrial stromal sarcoma; Stromal sarcoma of the corpus uteri (ORPHA:213711)
Association type: UNKNOWN
Gene: JAZF1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: NUTM2B
Disease: Endometrial stromal sarcoma; Stromal sarcoma of the corpus uteri (ORPHA:213711)
Association type: UNKNOWN
Gene: NUTM2B
Disease: Clear cell sarcoma of kidney; CCSK (ORPHA:457246)
Association type: UNKNOWN
Gene: WNT9B
Disease: Renal agenesis, bilateral (ORPHA:1848)
Association type: UNKNOWN
Gene: INO80
Disease: Combined immunodeficiency with granulomatosis; CID due to RAG 1/2 deficiency; Combined immunodeficiency due to RAG 1/2 deficiency (ORPHA:157949)
Association type: UNKNOWN
Gene: MASTL
Disease: Autosomal thrombocytopenia with normal platelets (ORPHA:168629)
Association type: UNKNOWN
Gene: TRAF6
Disease: Autosomal dominant hypohidrotic ectodermal dysplasia; AD-HED; Autosomal dominant anhidrotic ectodermal dysplasia (ORPHA:1810)
Association type: UNKNOWN
Gene: IFT88
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: TRIM22
Disease: TRIM22-related inflammatory bowel disease; TRIM22-related IBD (ORPHA:597201)
Association type: UNKNOWN
Gene: AGTR2
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: ARHGEF6
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: ZNF81
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: CIZ1
Disease: Adult-onset cervical dystonia, DYT23 type; DYT23; Dystonia 23 (ORPHA:420492)
Association type: UNKNOWN
Gene: CRKL
Disease: Distal 22q11.2 microdeletion syndrome; Distal del(22)(q11.2); Distal monosomy 22q11.2 (ORPHA:261330)
Association type: UNKNOWN
Gene: ERBIN
Disease: Autosomal dominant combined immunodeficiency due to ERBIN deficiency; AD-CID due to ERBIN deficiency; Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency (ORPHA:656912)
Association type: UNKNOWN
Gene: GNA14
Disease: Tufted angioma; Nakagawa angioblastoma (ORPHA:1063)
Association type: UNKNOWN
Gene: GNA14
Disease: Kaposiform hemangioendothelioma (ORPHA:2122)
Association type: UNKNOWN
Gene: GNA14
Disease: Anastomosing haemangioma (ORPHA:675359)
Association type: UNKNOWN
Gene: BUB3
Disease: Mosaic variegated aneuploidy syndrome; Warburton-Anyane-Yeboa syndrome (ORPHA:1052)
Association type: UNKNOWN
Gene: MAPK10
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: PGRMC1
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: ATRIP
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: TOMM40
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: SORL1
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: PON2
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: GLT8D1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: PPARGC1A
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: PON3
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: DAO
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: UNC13A
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: TFEB
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: SFPQ
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: SAT1
Disease: Keratosis follicularis spinulosa decalvans (ORPHA:2340)
Association type: UNKNOWN
Gene: SAT1
Disease: Pediatric systemic lupus erythematosus; SLE, pediatric onset (ORPHA:93552)
Association type: UNKNOWN
Gene: NUTM1
Disease: NUT midline carcinoma; NMC (ORPHA:443167)
Association type: UNKNOWN
Gene: PTPN3
Disease: Cholangiocarcinoma; Bile duct cancer; CCA (ORPHA:70567)
Association type: UNKNOWN
Gene: ATP10A
Disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Association type: UNKNOWN
Gene: AGGF1
Disease: Klippel-Trénaunay syndrome (ORPHA:90308)
Association type: UNKNOWN
Gene: BRCC3
Disease: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome; Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism (ORPHA:280679)
Association type: UNKNOWN
Gene: CREB3L2
Disease: Myxofibrosarcoma; Fibromyxosarcoma; Myxoid malignant fibrous histiocytoma (ORPHA:79105)
Association type: UNKNOWN
Gene: CLTCL1
Disease: Congenital insensitivity to pain with severe intellectual disability; Congenital absence of pain with severe intellectual disability; Congenital analgesia with severe intellectual disability; Congenital insensitivity to pain with preserved temperature sensation; Congenital insensitivity to pain with severe non-progressive cognitive delay (ORPHA:453510)
Association type: UNKNOWN
Gene: AFF1
Disease: Mixed phenotype acute leukemia with t(v;11q23.3); MPAL with t(v;11q23.3); KMT2A rearranged; MPAL with t(v;11q23.3); MLL rearranged (ORPHA:589595)
Association type: UNKNOWN
Gene: CTR9
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: CTR9
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TRIM28
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: GAPVD1
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: ANKFY1
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: ARHGAP24
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: CPA1
Disease: Hereditary chronic pancreatitis (ORPHA:676)
Association type: UNKNOWN
Gene: LHX1
Disease: 17q12 microdeletion syndrome; Del(17)(q12); Monosomy 17q12 (ORPHA:261265)
Association type: UNKNOWN
Gene: CYSLTR2
Disease: Uveal melanoma; Choroid melanoma; Choroidal and ciliary body melanomas; Melanoma of choroid; Melanoma of uvea (ORPHA:39044)
Association type: UNKNOWN
Gene: TERF2IP
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: CDKN2B
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: CDKN2B
Disease: Multiple endocrine neoplasia type 1; MEN1; Wermer syndrome (ORPHA:652)
Association type: UNKNOWN
Gene: UTP4
Disease: Hereditary North American Indian childhood cirrhosis (ORPHA:168583)
Association type: UNKNOWN
Gene: CDKN1A
Disease: Multiple endocrine neoplasia type 1; MEN1; Wermer syndrome (ORPHA:652)
Association type: UNKNOWN
Gene: CDKN2C
Disease: Multiple endocrine neoplasia type 1; MEN1; Wermer syndrome (ORPHA:652)
Association type: UNKNOWN
Gene: TNFSF12
Disease:  (ORPHA:696931)
Association type: UNKNOWN
Gene: LIN28B
Disease: Neuroblastoma (ORPHA:635)
Association type: UNKNOWN
Gene: LMO1
Disease: Neuroblastoma (ORPHA:635)
Association type: UNKNOWN
Gene: FLRT1
Disease: Spastic paraplegia-optic atrophy-neuropathy syndrome; SPOAN (ORPHA:320406)
Association type: UNKNOWN
Gene: MT-ATP8
Disease: Isolated ATP synthase deficiency; Isolated mitochondrial respiratory chain complex V deficiency (ORPHA:254913)
Association type: UNKNOWN
Gene: MT-ATP8
Disease: Periodic paralysis with later-onset distal motor neuropathy (ORPHA:397750)
Association type: UNKNOWN
Gene: MT-ATP8
Disease: Kearns-Sayre syndrome (ORPHA:480)
Association type: UNKNOWN
Gene: PHKG1
Disease: Glycogen storage disease due to muscle phosphorylase kinase deficiency; GSD due to muscle phosphorylase kinase deficiency; GSD type 9D; GSD type 9E; GSD type IXd; GSD type IXe; Glycogen storage disease type 9D; Glycogen storage disease type 9E; Glycogen storage disease type IXd; Glycogen storage disease type IXe; Glycogenosis due to muscle phosphorylase kinase deficiency; Glycogenosis type 9D; Glycogenosis type 9E; Glycogenosis type IXd; Glycogenosis type IXe (ORPHA:715)
Association type: UNKNOWN
Gene: RUNX1T1
Disease: Acute myeloid leukemia with t(8;21)(q22;q22) translocation; AML with t(8;21)(q22;q22) translocation (ORPHA:102724)
Association type: UNKNOWN
Gene: WNT7B
Disease: Matthew-Wood syndrome; Anophthalmia-pulmonary hypoplasia syndrome; PDAC syndrome; Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome; Spear syndrome (ORPHA:2470)
Association type: UNKNOWN
Gene: RPS15
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: IGHG1
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: IGHG1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: IGHV3-21
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: P2RX7
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: ARL11
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: TMEM185A
Disease: FRAXF syndrome (ORPHA:100974)
Association type: UNKNOWN
Gene: NFAT5
Disease: Inflammatory bowel disease-recurrent sinopulmonary infections syndrome; NFAT5 haploinsufficiency (ORPHA:529980)
Association type: UNKNOWN
Gene: SEM1
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: EPS15L1
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: DNAJC13
Disease: Hereditary late-onset Parkinson disease; Autosomal dominant late-onset Parkinson disease; LOPD (ORPHA:411602)
Association type: UNKNOWN
Gene: ADORA2A
Disease: Acute encephalopathy with biphasic seizures and late reduced diffusion; AESD; AIEF; Acute infantile encephalopathy predominantly affecting the frontal lobes (ORPHA:363549)
Association type: UNKNOWN
Gene: INHBA
Disease: Adenocarcinoma of ovary; Ovarian adenocarcinoma (ORPHA:213504)
Association type: UNKNOWN
Gene: PPM1B
Disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Del(2)(p21); Monosomy 2p21 (ORPHA:163693)
Association type: UNKNOWN
Gene: RPN1
Disease: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2); AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) (ORPHA:402020)
Association type: UNKNOWN
Gene: RBM15
Disease: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13); Megakaryoblastic AML with t(1;22)(p13;q13) (ORPHA:402023)
Association type: UNKNOWN
Gene: TSPY1
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: DAZ4
Disease: Chromosome Y microdeletion syndrome; Male infertility due to chromosome Y microdeletion; Microdeletion of the AZF region on the Y chromosome (ORPHA:1646)
Association type: UNKNOWN
Gene: PRKCZ
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: MMP23B
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: LUZP1
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: PDPN
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: UBE4B
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: CASZ1
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: GSTM3
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CEACAM3
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: DCTN4
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: SLC26A9
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: SLC6A14
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CLCA4
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: CEACAM6
Disease: Cystic fibrosis; CF; Mucoviscidosis (ORPHA:586)
Association type: UNKNOWN
Gene: IGHV4-34
Disease: Hairy cell leukemia variant; HCL-v; Leukemic reticuloendotheliosis variant; Prolymphocytic variant of HCL; Prolymphocytic variant of hairy cell leukemia (ORPHA:300878)
Association type: UNKNOWN
Gene: NIPA2
Disease: 15q11.2 microdeletion syndrome; 15q11.2 BP1-BP2 microdeletion syndrome; Del(15)(q11.2); Monosomy 15q11.2 (ORPHA:261183)
Association type: UNKNOWN
Gene: FCGR3B
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: FCGR3B
Disease: Neonatal alloimmune neutropenia (ORPHA:464370)
Association type: UNKNOWN
Gene: ITGAM
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: BANK1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: IRAK1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: IRAK1
Disease: Pediatric systemic lupus erythematosus; SLE, pediatric onset (ORPHA:93552)
Association type: UNKNOWN
Gene: ETS1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: TNIP1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: UBE2L3
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: SPP1
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: SPP1
Disease: Pediatric systemic lupus erythematosus; SLE, pediatric onset (ORPHA:93552)
Association type: UNKNOWN
Gene: PXK
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: PALS1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ACTL6A
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: UPF1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SYNCRIP
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: REV3L
Disease: Moebius syndrome; Möbius syndrome (ORPHA:570)
Association type: UNKNOWN
Gene: SH3PXD2A
Disease: Malignant triton tumor; MPNST with rhabdomyosarcomatous differentiation; MTT; Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation (ORPHA:252212)
Association type: UNKNOWN
Gene: SH3PXD2A
Disease: Malignant peripheral nerve sheath tumor with perineurial differentiation; Malignant perineurioma (ORPHA:252128)
Association type: UNKNOWN
Gene: HIRA
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: SEC24C
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: UFD1
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: ARVCF
Disease: 22q11.2 deletion syndrome; 22q11DS; CATCH 22; Cayler cardiofacial syndrome; Conotruncal anomaly face syndrome; DiGeorge sequence; DiGeorge syndrome; Microdeletion 22q11.2; Monosomy 22q11; Sedlackova syndrome; Shprintzen syndrome; Takao syndrome; Velocardiofacial syndrome (ORPHA:567)
Association type: UNKNOWN
Gene: DGAT2
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation; CMT2 due to DGAT2 mutation (ORPHA:487814)
Association type: UNKNOWN
Gene: ADAMTSL1
Disease: Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome (ORPHA:521445)
Association type: UNKNOWN
Gene: WWTR1
Disease: Epithelioid hemangioendothelioma (ORPHA:157791)
Association type: UNKNOWN
Gene: WWTR1
Disease: Pseudomyogenic hemangioendothelioma (ORPHA:673556)
Association type: UNKNOWN
Gene: CYP51A1
Disease: Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome (ORPHA:521432)
Association type: UNKNOWN
Gene: HLA-DRA
Disease: Graham Little-Piccardi-Lassueur syndrome; Graham Little syndrome; Piccardi-Lassueur-Little syndrome (ORPHA:505)
Association type: UNKNOWN