TaoMedAI/RareMedData huggingface dataset:
Gene: BBS7
Disease: BARDET-BIEDL SYNDROME 7 (OMIM:615984)
Association type: MENDELIAN
Gene: BBS7
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS7
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: COQ9
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 5 (OMIM:614654)
Association type: MENDELIAN
Gene: COQ9
Disease: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome (ORPHA:319678)
Association type: UNKNOWN
Gene: PAM16
Disease: SPONDYLOMETAPHYSEAL DYSPLASIA, MEGARBANE-DAGHER-MELKI TYPE (OMIM:613320)
Association type: MENDELIAN
Gene: PAM16
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PAM16
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PAM16
Disease: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type (ORPHA:401979)
Association type: UNKNOWN
Gene: BBS4
Disease: BARDET-BIEDL SYNDROME 4 (OMIM:615982)
Association type: MENDELIAN
Gene: BBS4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS4
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: PDSS1
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 2 (OMIM:614651)
Association type: MENDELIAN
Gene: PDSS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PDSS1
Disease: Deafness-encephaloneuropathy-obesity-valvulopathy syndrome; Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome (ORPHA:254898)
Association type: UNKNOWN
Gene: BBS5
Disease: BARDET-BIEDL SYNDROME 5 (OMIM:615983)
Association type: MENDELIAN
Gene: BBS5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS5
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: PDSS2
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 3 (OMIM:614652)
Association type: MENDELIAN
Gene: BBS12
Disease: BARDET-BIEDL SYNDROME 12 (OMIM:615989)
Association type: MENDELIAN
Gene: BBS12
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS12
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: BBS9
Disease: BARDET-BIEDL SYNDROME 9 (OMIM:615986)
Association type: MENDELIAN
Gene: BBS9
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS9
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: CAVIN1
Disease: LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4 (OMIM:613327)
Association type: MENDELIAN
Gene: CAVIN1
Disease:  (ORPHA:228429)
Association type: UNKNOWN
Gene: BBS10
Disease: BARDET-BIEDL SYNDROME 10 (OMIM:615987)
Association type: MENDELIAN
Gene: BBS10
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS10
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: SERPINE1
Disease: PLASMINOGEN ACTIVATOR INHIBITOR-1 DEFICIENCY (OMIM:613329)
Association type: MENDELIAN
Gene: SERPINE1
Disease: Congenital plasminogen activator inhibitor type 1 deficiency; Congenital PAI-1 deficiency (ORPHA:465)
Association type: UNKNOWN
Gene: SERPINE1
Disease: Pseudomyogenic hemangioendothelioma (ORPHA:673556)
Association type: UNKNOWN
Gene: KNSTRN
Disease: ROIFMAN-CHITAYAT SYNDROME (OMIM:613328)
Association type: MENDELIAN
Gene: KNSTRN
Disease: Combined immunodeficiency with facio-oculo-skeletal anomalies; Roifman-Chitayat syndrome (ORPHA:221139)
Association type: UNKNOWN
Gene: ASPSCR1
Disease: ALVEOLAR SOFT PART SARCOMA (OMIM:606243)
Association type: MENDELIAN
Gene: ASPSCR1
Disease: MiT family translocation renal cell carcinoma; Carcinoma associated with MITF/TFE translocation; Translocation renal cell carcinoma (ORPHA:319308)
Association type: UNKNOWN
Gene: ASPSCR1
Disease: Alveolar soft tissue sarcoma; ASPS; Alveolar soft part sarcoma (ORPHA:163699)
Association type: UNKNOWN
Gene: HPSE2
Disease: UROFACIAL SYNDROME 1 (OMIM:236730)
Association type: MENDELIAN
Gene: HPSE2
Disease: Urofacial syndrome; Hydronephrosis-inverted smile syndrome; Inverted smile-neurogenic bladder syndrome; Ochoa facial syndrome; Ochoa syndrome; Partial facial palsy with urinary abnormalities (ORPHA:2704)
Association type: UNKNOWN
Gene: UNC13D
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 3 (OMIM:608898)
Association type: MENDELIAN
Gene: UNC13D
Disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Association type: UNKNOWN
Gene: NKX3-2
Disease: SPONDYLO-MEGAEPIPHYSEAL-METAPHYSEAL DYSPLASIA (OMIM:613330)
Association type: MENDELIAN
Gene: NKX3-2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NKX3-2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NKX3-2
Disease: Spondylo-megaepiphyseal-metaphyseal dysplasia (ORPHA:228387)
Association type: UNKNOWN
Gene: MKS1
Disease: BARDET-BIEDL SYNDROME 13 (OMIM:615990)
Association type: MENDELIAN
Gene: MKS1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: MKS1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MKS1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MKS1
Disease: JOUBERT SYNDROME 28 (OMIM:617121)
Association type: MENDELIAN
Gene: MKS1
Disease: MECKEL SYNDROME, TYPE 1 (OMIM:249000)
Association type: MENDELIAN
Gene: MKS1
Disease: Joubert syndrome with ocular defect; JS-O; Joubert syndrome with retinopathy (ORPHA:220493)
Association type: UNKNOWN
Gene: MKS1
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: MKS1
Disease: Meckel syndrome; Dysencephalia splanchnocystica; Meckel-Gruber syndrome (ORPHA:564)
Association type: UNKNOWN
Gene: MKS1
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: PEX12
Disease: PEROXISOME BIOGENESIS DISORDER 3B (OMIM:266510)
Association type: MENDELIAN
Gene: PEX12
Disease: PEROXISOME BIOGENESIS DISORDER 3A (ZELLWEGER) (OMIM:614859)
Association type: MENDELIAN
Gene: PEX12
Disease: Neonatal adrenoleukodystrophy; Intermediate PBD-ZSD; Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder; NALD (ORPHA:44)
Association type: UNKNOWN
Gene: PEX12
Disease: Zellweger syndrome; Cerebrohepatorenal syndrome; Severe PBD-ZSD; Severe peroxisome biogenesis disorder-Zellweger spectrum disorder; ZS (ORPHA:912)
Association type: UNKNOWN
Gene: PEX12
Disease: Infantile Refsum disease; IRD; Mild PBD-ZSD; Mild peroxisome biogenesis disorder-Zellweger spectrum disorder (ORPHA:772)
Association type: UNKNOWN
Gene: BBIP1
Disease: BARDET-BIEDL SYNDROME 18 (OMIM:615995)
Association type: MENDELIAN
Gene: BBIP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBIP1
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: KLF13
Disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Association type: MENDELIAN
Gene: CHRNA7
Disease: CHROMOSOME 15q13.3 DELETION SYNDROME (OMIM:612001)
Association type: MENDELIAN
Gene: CHRNA7
Disease: 15q13.3 microdeletion syndrome; Del(15)(q13.3); Monosomy 15q13.3 (ORPHA:199318)
Association type: UNKNOWN
Gene: IFT27
Disease: BARDET-BIEDL SYNDROME 19 (OMIM:615996)
Association type: MENDELIAN
Gene: IFT27
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IFT27
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: SDCCAG8
Disease: BARDET-BIEDL SYNDROME 16 (OMIM:615993)
Association type: MENDELIAN
Gene: SDCCAG8
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: SDCCAG8
Disease: SENIOR-LOKEN SYNDROME 7 (OMIM:613615)
Association type: MENDELIAN
Gene: SDCCAG8
Disease: Senior-Loken syndrome; Nephronophthisis with retinal dystrophy; Renal dysplasia-retinal aplasia syndrome; SLSN (ORPHA:3156)
Association type: UNKNOWN
Gene: SDCCAG8
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: HSD11B1
Disease: CORTISONE REDUCTASE DEFICIENCY 2 (OMIM:614662)
Association type: MENDELIAN
Gene: HSD11B1
Disease: Hyperandrogenism due to cortisone reductase deficiency; 11-beta-hydroxysteroid dehydrogenase deficiency type 1 (ORPHA:168588)
Association type: UNKNOWN
Gene: LZTFL1
Disease: BARDET-BIEDL SYNDROME 17 (OMIM:615994)
Association type: MENDELIAN
Gene: LZTFL1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LZTFL1
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: ALB
Disease: HYPERTHYROXINEMIA, FAMILIAL DYSALBUMINEMIC (OMIM:615999)
Association type: MENDELIAN
Gene: ALB
Disease: ANALBUMINEMIA (OMIM:616000)
Association type: MENDELIAN
Gene: ALB
Disease: Congenital analbuminemia (ORPHA:86816)
Association type: UNKNOWN
Gene: PLCB4
Disease: AURICULOCONDYLAR SYNDROME 2 (OMIM:614669)
Association type: MENDELIAN
Gene: PLCB4
Disease: AURICULOCONDYLAR SYNDROME 2B (OMIM:620458)
Association type: MENDELIAN
Gene: PLCB4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PLCB4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PLCB4
Disease: Auriculocondylar syndrome; Question mark ear syndrome (ORPHA:137888)
Association type: UNKNOWN
Gene: CYCS
Disease: THROMBOCYTOPENIA 4 (OMIM:612004)
Association type: MENDELIAN
Gene: CYCS
Disease: Autosomal thrombocytopenia with normal platelets (ORPHA:168629)
Association type: UNKNOWN
Gene: FBLN5
Disease: NEUROPATHY, HEREDITARY, WITH OR WITHOUT AGE-RELATED MACULAR DEGENERATION (OMIM:608895)
Association type: MENDELIAN
Gene: FBLN5
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 2 (OMIM:614434)
Association type: MENDELIAN
Gene: FBLN5
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1H (OMIM:619764)
Association type: MENDELIAN
Gene: FBLN5
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA (OMIM:219100)
Association type: MENDELIAN
Gene: FBLN5
Disease: Hereditary sensorimotor neuropathy with hyperelastic skin (ORPHA:280598)
Association type: UNKNOWN
Gene: FBLN5
Disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Association type: UNKNOWN
Gene: FBLN5
Disease: Autosomal recessive cutis laxa type 1; ARCL1; Autosomal recessive cutis laxa with severe systemic involvement; Autosomal recessive cutis laxa, pulmonary emphysema type (ORPHA:90349)
Association type: UNKNOWN
Gene: ARSB
Disease: MUCOPOLYSACCHARIDOSIS, TYPE VI (OMIM:253200)
Association type: MENDELIAN
Gene: ARSB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ARSB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ARSB
Disease: Mucopolysaccharidosis type 6, rapidly progressing; Arylsulfatase B deficiency, rapidly progressing; MPS6, rapidly progressing; MPSVI, rapidly progressing; Mucopolysaccharidosis type VI, rapidly progressing (ORPHA:276212)
Association type: UNKNOWN
Gene: ARSB
Disease: Mucopolysaccharidosis type 6, slowly progressing; Arylsulfatase B deficiency, slowly progressing; MPS6, slowly progressing; MPSVI, slowly progressing; Mucopolysaccharidosis type VI, slowly progressing (ORPHA:276223)
Association type: UNKNOWN
Gene: PHYH
Disease: REFSUM DISEASE, CLASSIC (OMIM:266500)
Association type: MENDELIAN
Gene: PHYH
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PHYH
Disease: Refsum disease; Adult Refsum disease; Classic Refsum disease; HMSN 4; HMSN IV; Hereditary motor and sensory neuropathy type 4; Hereditary motor and sensory neuropathy type IV; Heredopathia atactica polyneuritiformis; Phytanic-CoA hydroxylase deficiency (ORPHA:773)
Association type: UNKNOWN
Gene: GATAD1
Disease: CARDIOMYOPATHY, DILATED, 2B (OMIM:614672)
Association type: MENDELIAN
Gene: GATAD1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: LRAT
Disease: LEBER CONGENITAL AMAUROSIS 14 (OMIM:613341)
Association type: MENDELIAN
Gene: LRAT
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LRAT
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: LRAT
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: LRAT
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: LRAT
Disease: Severe early-childhood-onset retinal dystrophy; EOSRD; Early-onset severe retinal dystrophy; SECORD (ORPHA:364055)
Association type: UNKNOWN
Gene: SRP72
Disease: BONE MARROW FAILURE SYNDROME 1 (OMIM:614675)
Association type: MENDELIAN
Gene: SRP72
Disease: Autosomal dominant aplasia and myelodysplasia; Autosomal dominant aplastic anemia and myelodysplasia (ORPHA:314399)
Association type: UNKNOWN
Gene: CEP135
Disease: MICROCEPHALY 8, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614673)
Association type: MENDELIAN
Gene: CEP135
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: HTR1A
Disease: PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT (OMIM:614674)
Association type: MENDELIAN
Gene: HTR1A
Disease: Menstrual cycle-dependent periodic fever; Luteal-phase-dependent febrile episode; Luteal-phase-dependent periodic fever; Menstrual cycle-dependent febrile episode (ORPHA:498251)
Association type: UNKNOWN
Gene: DNAAF19
Disease: CILIARY DYSKINESIA, PRIMARY, 17 (OMIM:614679)
Association type: MENDELIAN
Gene: DNAAF19
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: COQ8A
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 4 (OMIM:612016)
Association type: MENDELIAN
Gene: COQ8A
Disease: Autosomal recessive ataxia due to ubiquinone deficiency; ARCA2; Autosomal recessive ataxia due to coenzyme Q10 deficiency; Autosomal recessive cerebellar ataxia type 2; Autosomal recessive spinocerebellar ataxia type 9; SCAR9 (ORPHA:139485)
Association type: UNKNOWN
Gene: RFT1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE In (OMIM:612015)
Association type: MENDELIAN
Gene: RFT1
Disease: RFT1-CDG; CDG syndrome type In; CDG-In; CDG1N; Carbohydrate deficient glycoprotein syndrome type In; Congenital disorder of glycosylation type 1n; Congenital disorder of glycosylation type In; Man5GlcNAc2-PP-Dol flippase deficiency (ORPHA:244310)
Association type: UNKNOWN
Gene: SLC16A12
Disease: CATARACT 47 (OMIM:612018)
Association type: MENDELIAN
Gene: SLC16A12
Disease: Juvenile cataract-microcornea-renal glucosuria syndrome; Juvenile cataract-microcornea-renal glycosuria syndrome (ORPHA:247794)
Association type: UNKNOWN
Gene: EXOSC3
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1B (OMIM:614678)
Association type: MENDELIAN
Gene: EXOSC3
Disease: Pontocerebellar hypoplasia type 1; Norman disease; PCH1 (ORPHA:2254)
Association type: UNKNOWN
Gene: FBXL3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE, FACIAL ANOMALIES, AND SPEECH DEFECTS (OMIM:606220)
Association type: MENDELIAN
Gene: CRELD1
Disease: ATRIOVENTRICULAR SEPTAL DEFECT, SUSCEPTIBILITY TO, 2 (OMIM:606217)
Association type: MENDELIAN
Gene: CRELD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CRELD1
Disease: JEFFRIES-LAKHANI NEURODEVELOPMENTAL SYNDROME (OMIM:620771)
Association type: MENDELIAN
Gene: CRELD1
Disease: Complete atrioventricular septal defect with ventricular hypoplasia; CAVC with ventricular hypoplasia; Complete AVSD with ventricular hypoplasia; Complete atrioventricular canal defect with ventricular hypoplasia; Complete atrioventricular septal defect with ventricular imbalance; Unbalanced complete atrioventricular canal (ORPHA:99067)
Association type: UNKNOWN
Gene: CRELD1
Disease: Complete atrioventricular septal defect-tetralogy of Fallot; CAVC-tetralogy of Fallot; Complete AVSD-tetralogy of Fallot; Complete atrioventricular canal defect-tetralogy of Fallot (ORPHA:99068)
Association type: UNKNOWN
Gene: CRELD1
Disease: Partial atrioventricular septal defect without ventricular hypoplasia; Balanced partial atrioventricular canal; PAVC without ventricular hypoplasia; Partial AVSD without ventricular hypoplasia; Partial atrioventricular canal defect without ventricular hypoplasia; Partial atrioventricular septal defect with balanced ventricles (ORPHA:576235)
Association type: UNKNOWN
Gene: IFITM3
Disease: INFLUENZA, SEVERE, SUSCEPTIBILITY TO (OMIM:614680)
Association type: POLYGENIC
Gene: SH3TC2
Disease: MONONEUROPATHY OF THE MEDIAN NERVE, MILD (OMIM:613353)
Association type: MENDELIAN
Gene: SH3TC2
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4C (OMIM:601596)
Association type: MENDELIAN
Gene: SH3TC2
Disease: Charcot-Marie-Tooth disease type 4C; CMT4C (ORPHA:99949)
Association type: UNKNOWN
Gene: KCNJ1
Disease: BARTTER SYNDROME, TYPE 2, ANTENATAL (OMIM:241200)
Association type: MENDELIAN
Gene: KCNJ1
Disease: Bartter syndrome type 2; Bartter syndrome type II (ORPHA:620220)
Association type: UNKNOWN
Gene: CR2
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 7 (OMIM:614699)
Association type: MENDELIAN
Gene: CR2
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS, SUSCEPTIBILITY TO, 9 (OMIM:610927)
Association type: POLYGENIC
Gene: CR2
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 2 (OMIM:240500)
Association type: MENDELIAN
Gene: CR2
Disease:  (ORPHA:696894)
Association type: UNKNOWN
Gene: CR2
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: CCND1
Disease: MYELOMA, MULTIPLE (OMIM:254500)
Association type: POLYGENIC
Gene: CCND1
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: POLYGENIC
Gene: CCND1
Disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Association type: POLYGENIC
Gene: CCND1
Disease: Mantle cell lymphoma; LCM; MCL; Mantle zone lymphoma (ORPHA:52416)
Association type: UNKNOWN
Gene: CCND1
Disease: Von Hippel-Lindau disease; Familial cerebelloretinal angiomatosis; Lindau disease; VHL; Von Hippel-Lindau syndrome (ORPHA:892)
Association type: UNKNOWN
Gene: CCND1
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: CCND1
Disease: Multiple myeloma; Kahler disease; Medullary plasmacytoma; Myelomatosis; Plasma cell myeloma (ORPHA:29073)
Association type: UNKNOWN
Gene: LIG4
Disease: MYELOMA, MULTIPLE (OMIM:254500)
Association type: POLYGENIC
Gene: LIG4
Disease: LIG4 SYNDROME (OMIM:606593)
Association type: MENDELIAN
Gene: LIG4
Disease: LIG4 syndrome; DNA ligase IV deficiency; Ligase 4 syndrome (ORPHA:99812)
Association type: UNKNOWN
Gene: LIG4
Disease: Dubowitz syndrome (ORPHA:235)
Association type: UNKNOWN
Gene: LIG4
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: HSPB3
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIC (OMIM:613376)
Association type: MENDELIAN
Gene: HSPB3
Disease: Distal hereditary motor neuropathy type 2; Distal spinal muscular atrophy type 2; dHMN2; dSMA2 (ORPHA:139525)
Association type: UNKNOWN
Gene: BLK
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 11 (OMIM:613375)
Association type: MENDELIAN
Gene: BLK
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: BLK
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: FFAR4
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 10 (OMIM:607514)
Association type: POLYGENIC
Gene: CHRNA5
Disease: SMOKING AS A QUANTITATIVE TRAIT LOCUS 3 (OMIM:612052)
Association type: POLYGENIC
Gene: PTHLH
Disease: BRACHYDACTYLY, TYPE E2 (OMIM:613382)
Association type: MENDELIAN
Gene: PTHLH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PTHLH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PTHLH
Disease: Brachydactyly type E (ORPHA:93387)
Association type: UNKNOWN
Gene: ITCH
Disease: AUTOIMMUNE DISEASE, MULTISYSTEM, WITH FACIAL DYSMORPHISM (OMIM:613385)
Association type: MENDELIAN
Gene: ITCH
Disease: Syndromic multisystem autoimmune disease due to Itch deficiency (ORPHA:228426)
Association type: UNKNOWN
Gene: SYN1
Disease: EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS (OMIM:300491)
Association type: MENDELIAN
Gene: SYN1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED 50 (OMIM:300115)
Association type: MENDELIAN
Gene: SYN1
Disease: X-linked epilepsy-learning disabilities-behavior disorders syndrome (ORPHA:85294)
Association type: UNKNOWN
Gene: NLGN4X
Disease: AUTISM, SUSCEPTIBILITY TO, X-LINKED 2 (OMIM:300495)
Association type: MENDELIAN
Gene: RAD51C
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP O (OMIM:613390)
Association type: MENDELIAN
Gene: RAD51C
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3 (OMIM:613399)
Association type: POLYGENIC
Gene: RAD51C
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: RAD51C
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: CD207
Disease: BIRBECK GRANULE DEFICIENCY (OMIM:613393)
Association type: MENDELIAN
Gene: DDX11
Disease: WARSAW BREAKAGE SYNDROME (OMIM:613398)
Association type: MENDELIAN
Gene: DDX11
Disease: Warsaw breakage syndrome; WABS (ORPHA:280558)
Association type: UNKNOWN
Gene: PRKRA
Disease: DYSTONIA 16 (OMIM:612067)
Association type: MENDELIAN
Gene: PRKRA
Disease: Dystonia 16; DYT16; Early-onset dystonia parkinsonism (ORPHA:210571)
Association type: UNKNOWN
Gene: GUSB
Disease: MUCOPOLYSACCHARIDOSIS, TYPE VII (OMIM:253220)
Association type: MENDELIAN
Gene: GUSB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GUSB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GUSB
Disease: Mucopolysaccharidosis type 7; Beta-glucuronidase deficiency; MPS7; MPSVII; Mucopolysaccharidosis type VII; Sly disease (ORPHA:584)
Association type: UNKNOWN
Gene: TARDBP
Disease: AMYOTROPHIC LATERAL SCLEROSIS 10 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (OMIM:612069)
Association type: MENDELIAN
Gene: TARDBP
Disease:  (ORPHA:700154)
Association type: UNKNOWN
Gene: TARDBP
Disease: Frontotemporal dementia with motor neuron disease; FTD-ALS; FTD-MND; Frontotemporal dementia with amyotrophic lateral sclerosis (ORPHA:275872)
Association type: UNKNOWN
Gene: TARDBP
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: SUCLA2
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
Association type: MENDELIAN
Gene: SUCLA2
Disease: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria; Booth-Haworth-Dilling syndrome; Mitochondrial encephalomyopathy-aminoacidopathy syndrome; mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (ORPHA:1933)
Association type: UNKNOWN
Gene: SLC2A9
Disease: HYPOURICEMIA, RENAL, 2 (OMIM:612076)
Association type: MENDELIAN
Gene: SLC2A9
Disease: Hereditary renal hypouricemia; Familial renal hypouricemia (ORPHA:94088)
Association type: UNKNOWN
Gene: RBM28
Disease: ALOPECIA, NEUROLOGIC DEFECTS, AND ENDOCRINOPATHY SYNDROME (OMIM:612079)
Association type: MENDELIAN
Gene: RBM28
Disease: ANE syndrome; Alopecia-progressive neurological defect-endocrinopathy syndrome (ORPHA:157954)
Association type: UNKNOWN
Gene: SLC10A2
Disease: BILE ACID MALABSORPTION, PRIMARY (OMIM:613291)
Association type: MENDELIAN
Gene: LMAN1
Disease: FACTOR V AND FACTOR VIII, COMBINED DEFICIENCY OF, 1 (OMIM:227300)
Association type: MENDELIAN
Gene: LMAN1
Disease: Combined deficiency of factor V and factor VIII; F5F8D; FV and FVIII combined deficiency (ORPHA:35909)
Association type: UNKNOWN
Gene: CAPN3
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 1 (OMIM:253600)
Association type: MENDELIAN
Gene: CAPN3
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 4 (OMIM:618129)
Association type: MENDELIAN
Gene: CAPN3
Disease: Calpain-3-related limb-girdle muscular dystrophy R1; Autosomal recessive limb-girdle muscular dystrophy type 2A; Calpain-3-related LGMD R1; LGMD type 2A; LGMD2A; Limb-girdle muscular dystrophy due to calpain deficiency; Limb-girdle muscular dystrophy type 2A; Primary calpainopathy (ORPHA:267)
Association type: UNKNOWN