TaoMedAI/RareMedData huggingface dataset:
Gene: IRF5
Disease: Limited cutaneous systemic sclerosis; Limited cutaneous systemic scleroderma (ORPHA:220402)
Association type: UNKNOWN
Gene: IRF5
Disease: Diffuse cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis (ORPHA:220393)
Association type: UNKNOWN
Gene: IRF5
Disease: Primary biliary cholangitis; Hanot syndrome; PBC; Primary biliary cirrhosis (ORPHA:186)
Association type: UNKNOWN
Gene: IRF5
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: SORT1
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 (OMIM:613589)
Association type: MENDELIAN
Gene: TPCN2
Disease: SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10 (OMIM:612267)
Association type: MENDELIAN
Gene: ARHGAP26
Disease: JUVENILE MYELOMONOCYTIC LEUKEMIA (OMIM:607785)
Association type: MENDELIAN
Gene: SLC7A7
Disease: LYSINURIC PROTEIN INTOLERANCE (OMIM:222700)
Association type: MENDELIAN
Gene: SLC7A7
Disease: Lysinuric protein intolerance; Hyperdibasic aminoaciduria; LPI (ORPHA:470)
Association type: UNKNOWN
Gene: CTSB
Disease: KERATOLYTIC WINTER ERYTHEMA (OMIM:148370)
Association type: MENDELIAN
Gene: CTSB
Disease: Keratolytic winter erythema; Erythrokeratolysis hiemalis; Oudtshoorn disease (ORPHA:50943)
Association type: UNKNOWN
Gene: SAR1B
Disease: CHYLOMICRON RETENTION DISEASE (OMIM:246700)
Association type: MENDELIAN
Gene: SAR1B
Disease: Chylomicron retention disease; Anderson disease; CMRD; CRD (ORPHA:71)
Association type: UNKNOWN
Gene: JPH3
Disease: HUNTINGTON DISEASE-LIKE 2 (OMIM:606438)
Association type: MENDELIAN
Gene: JPH3
Disease: Huntington disease-like 2; HDL2 (ORPHA:98934)
Association type: UNKNOWN
Gene: HSD3B7
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 1 (OMIM:607765)
Association type: MENDELIAN
Gene: HSD3B7
Disease: Congenital bile acid synthesis defect type 1; 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency; BASD1 (ORPHA:79301)
Association type: UNKNOWN
Gene: NIPAL4
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 6 (OMIM:612281)
Association type: MENDELIAN
Gene: NIPAL4
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: NIPAL4
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: NHERF1
Disease: NEPHROLITHIASIS/OSTEOPOROSIS, HYPOPHOSPHATEMIC, 2 (OMIM:612287)
Association type: MENDELIAN
Gene: NHERF1
Disease: Dominant hypophosphatemia with nephrolithiasis or osteoporosis (ORPHA:244305)
Association type: UNKNOWN
Gene: HOXA2
Disease: MICROTIA, HEARING IMPAIRMENT, AND CLEFT PALATE (OMIM:612290)
Association type: MENDELIAN
Gene: HOXA2
Disease: Microtia (ORPHA:83463)
Association type: UNKNOWN
Gene: HOXA2
Disease: Bilateral microtia-deafness-cleft palate syndrome; Bilateral microtia-hearing loss-cleft palate syndrome (ORPHA:140963)
Association type: UNKNOWN
Gene: KCNK9
Disease: BIRK-BAREL SYNDROME (OMIM:612292)
Association type: MENDELIAN
Gene: KCNK9
Disease: Birk-Barel syndrome; Birk-Barel Intellectual Disability-Dimorphism syndrome; Intellectual disability-hypotonia-facial dysmorphism syndrome; KCNK9 imprinting syndrome (ORPHA:166108)
Association type: UNKNOWN
Gene: ARL13B
Disease: JOUBERT SYNDROME 8 (OMIM:612291)
Association type: MENDELIAN
Gene: ARL13B
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: OCLN
Disease: PSEUDO-TORCH SYNDROME 1 (OMIM:251290)
Association type: MENDELIAN
Gene: OCLN
Disease: Congenital intrauterine infection-like syndrome; BLC-PMG; Baraitser-Brett-Piesowicz syndrome; Baraitser-Reardon syndrome; Bilateral band-like calcification with polymicrogyria; Microcephaly-intracranial calcification-intellectual disability syndrome; Pseudo-TORCH syndrome (ORPHA:1229)
Association type: UNKNOWN
Gene: PCDH12
Disease: DIENCEPHALIC-MESENCEPHALIC JUNCTION DYSPLASIA SYNDROME 1 (OMIM:251280)
Association type: MENDELIAN
Gene: PCDH12
Disease: Diencephalic-mesencephalic junction dysplasia (ORPHA:319192)
Association type: UNKNOWN
Gene: DPYS
Disease: DIHYDROPYRIMIDINASE DEFICIENCY (OMIM:222748)
Association type: MENDELIAN
Gene: DPYS
Disease: Dihydropyrimidinuria; Dihydropyrimidinase deficiency (ORPHA:38874)
Association type: UNKNOWN
Gene: FNIP1
Disease: IMMUNODEFICIENCY 93 AND HYPERTROPHIC CARDIOMYOPATHY (OMIM:619705)
Association type: MENDELIAN
Gene: FNIP1
Disease:  (ORPHA:693647)
Association type: UNKNOWN
Gene: SPI1
Disease: AGAMMAGLOBULINEMIA 10, AUTOSOMAL DOMINANT (OMIM:619707)
Association type: MENDELIAN
Gene: SPI1
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: CIROP
Disease: HETEROTAXY, VISCERAL, 12, AUTOSOMAL (OMIM:619702)
Association type: MENDELIAN
Gene: CIROP
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: CIROP
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: GFI1B
Disease: BLEEDING DISORDER, PLATELET-TYPE, 17 (OMIM:187900)
Association type: MENDELIAN
Gene: GFI1B
Disease: Alpha delta granule deficiency; Alpha dense granule deficiency; Combined alpha-delta platelet storage pool deficiency (ORPHA:734)
Association type: UNKNOWN
Gene: GFI1B
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: SLC2A3
Disease: Huntington disease; Huntington chorea (ORPHA:399)
Association type: UNKNOWN
Gene: SEMA3D
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: SEMA3C
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: NRTN
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: MMP1
Disease: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form; Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis; Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type; Generalized RDEB, severe form; RDEB generalisata gravis; RDEB, Hallopeau-Siemens type; Severe generalized RDEB (ORPHA:79408)
Association type: UNKNOWN
Gene: DLG1
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: COBLL1
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: ARHGEF38
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: ARHGAP29
Disease: Cleft lip/palate; Alveolar cleft lip and palate; Cleft lip and palate; Cleft lip-alveolus-palate syndrome; FLP (ORPHA:199306)
Association type: UNKNOWN
Gene: CFHR2
Disease: C3 glomerulonephritis (ORPHA:329931)
Association type: UNKNOWN
Gene: SPARCL1
Disease: Congenital stromal corneal dystrophy; CSCD; Congenital hereditary stromal dystrophy; Witschel dystrophy (ORPHA:101068)
Association type: UNKNOWN
Gene: NME7
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: ANKS3
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: JRK
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: JRK
Disease: Childhood absence epilepsy; Pyknolepsy (ORPHA:64280)
Association type: UNKNOWN
Gene: CCR6
Disease: Limited cutaneous systemic sclerosis; Limited cutaneous systemic scleroderma (ORPHA:220402)
Association type: UNKNOWN
Gene: CCR6
Disease: Diffuse cutaneous systemic sclerosis; Diffuse cutaneous systemic scleroderma; Progressive cutaneous systemic scleroderma; Progressive cutaneous systemic sclerosis (ORPHA:220393)
Association type: UNKNOWN
Gene: KIAA0319L
Disease: Limited cutaneous systemic sclerosis; Limited cutaneous systemic scleroderma (ORPHA:220402)
Association type: UNKNOWN
Gene: KIAA0319L
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: DPYSL2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: YWHAZ
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: ARF3
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: ITSN1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: KIRREL3
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: BRSK2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: PRICKLE2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: PRICKLE2
Disease: Progressive myoclonic epilepsy type 5; EPM5; PME type 5; Progressive myoclonus epilepsy type 5 (ORPHA:402082)
Association type: UNKNOWN
Gene: CTNND2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: CTNND2
Disease: Monosomy 5p syndrome; Cri du chat syndrome; Deletion 5p (ORPHA:281)
Association type: UNKNOWN
Gene: CTNND2
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: RAB11A
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: UBB
Disease: Cleft hard palate (ORPHA:101023)
Association type: UNKNOWN
Gene: UBB
Disease: Submucosal cleft palate (ORPHA:155878)
Association type: UNKNOWN
Gene: UBB
Disease: Bifid uvula; Bifidity of the uvula; Uvular cleft (ORPHA:99771)
Association type: UNKNOWN
Gene: UBB
Disease: Cleft velum; Cleft soft palate; Cleft velum palatinum (ORPHA:99772)
Association type: UNKNOWN
Gene: CCDC91
Disease: Acrokeratoelastoidosis of Costa; AKE; PPKP3; Punctate palmoplantar hyperkeratosis type 3; Punctate palmoplantar keratoderma type 3 (ORPHA:38)
Association type: UNKNOWN
Gene: SIM1
Disease: 6q16 microdeletion syndrome; Del(6)(q16); Monosomy 6q16; Prader-Willi-like syndrome due to microdeletion 6q16 (ORPHA:171829)
Association type: UNKNOWN
Gene: SIM1
Disease: SIM1-related Prader-Willi-like syndrome; SIM1-related PWLS (ORPHA:398079)
Association type: UNKNOWN
Gene: SIM1
Disease: Obesity due to SIM1 deficiency (ORPHA:369873)
Association type: UNKNOWN
Gene: KCNJ3
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: ETV1
Disease: Skeletal Ewing sarcoma; Osseous Ewing sarcoma (ORPHA:319)
Association type: UNKNOWN
Gene: ETV4
Disease: Skeletal Ewing sarcoma; Osseous Ewing sarcoma (ORPHA:319)
Association type: UNKNOWN
Gene: TFB1M
Disease: Rare mitochondrial non-syndromic sensorineural deafness; Isolated mitochondrial neurosensory deafness; Isolated mitochondrial neurosensory hearing loss; Isolated mitochondrial sensorineural deafness; Isolated mitochondrial sensorineural hearing loss; Mitochondrial non-syndromic neurosensory deafness; Mitochondrial non-syndromic neurosensory hearing loss; Mitochondrial non-syndromic sensorineural hearing loss (ORPHA:90641)
Association type: UNKNOWN
Gene: SHROOM4
Disease: X-linked intellectual disability, Stocco Dos Santos type (ORPHA:85288)
Association type: UNKNOWN
Gene: GAS1
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: GAS1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: GAS1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: GAS1
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: GAS1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: GAS1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: SEPTIN14
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: SEPTIN14
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: MGMT
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: MGMT
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: MGMT
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: TACC1
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: TACC1
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: ROS1
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: ROS1
Disease: Cholangiocarcinoma; Bile duct cancer; CCA (ORPHA:70567)
Association type: UNKNOWN
Gene: TACC3
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: TACC3
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: MYO1C
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: CENPP
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: CHST8
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: TNFRSF1B
Disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Association type: UNKNOWN
Gene: TNFRSF1B
Disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Association type: UNKNOWN
Gene: HBD
Disease: Hemoglobin Lepore-beta-thalassemia syndrome; HbLepore-beta-thalassemia syndrome; Lepore-beta-thalassemia syndrome (ORPHA:330032)
Association type: UNKNOWN
Gene: HBD
Disease:  (ORPHA:699822)
Association type: UNKNOWN
Gene: HBD
Disease: Delta-beta-thalassemia (ORPHA:231237)
Association type: UNKNOWN
Gene: CEP126
Disease: Monomelic amyotrophy; Benign focal amyotrophy; Hirayama disease; JMADUE; Juvenile muscular atrophy of distal upper extremity; Juvenile muscular atrophy of the distal upper limb (ORPHA:65684)
Association type: UNKNOWN
Gene: ZNF592
Disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Association type: UNKNOWN
Gene: ASCL1
Disease: Haddad syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome (ORPHA:99803)
Association type: UNKNOWN
Gene: PTPN6
Disease: Sweet syndrome; Acute febrile neutrophilic dermatosis (ORPHA:3243)
Association type: UNKNOWN
Gene: PTPN6
Disease: Bullous pyoderma gangrenosum; Phemphigoid pyoderma gangrenosum (ORPHA:538869)
Association type: UNKNOWN
Gene: PTPN6
Disease: Pustular pyoderma gangrenosum (ORPHA:538866)
Association type: UNKNOWN
Gene: PTPN6
Disease: Classic pyoderma gangrenosum; Ulcerative pyoderma gangrenosum (ORPHA:538863)
Association type: UNKNOWN
Gene: PTPN6
Disease: Vegetative pyoderma gangrenosum; Granulomatous pyoderma gangrenosum (ORPHA:538872)
Association type: UNKNOWN
Gene: VAMP7
Disease: 46,XY partial gonadal dysgenesis; 46,XY PGD; 46,XY partial testicular dysgenesis (ORPHA:251510)
Association type: UNKNOWN
Gene: TRG
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: TLX3
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: TLX1
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: MYB
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: MYB
Disease: Acute basophilic leukemia (ORPHA:86849)
Association type: UNKNOWN
Gene: MYB
Disease: Angiocentric glioma (ORPHA:251671)
Association type: UNKNOWN
Gene: TCL1A
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: TRD
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: TRB
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: TRA
Disease: Precursor T-cell acute lymphoblastic leukemia; Precursor T-cell acute lymphoblastic leukemia/lymphoma; Precursor T-cell acute lymphocytic leukemia; Precursor T-cell acute lymphocytic leukemia/lymphoma; T-ALL (ORPHA:99861)
Association type: UNKNOWN
Gene: CAMKMT
Disease: Atypical hypotonia-cystinuria syndrome; Atypical HCS (ORPHA:238523)
Association type: UNKNOWN
Gene: CAMKMT
Disease: 2p21 microdeletion syndrome; 2p21 deletion syndrome; Del(2)(p21); Monosomy 2p21 (ORPHA:163693)
Association type: UNKNOWN
Gene: CAMKMT
Disease: 2p21 microdeletion syndrome without cystinuria; Del(2)(p21) without cystinuria (ORPHA:369881)
Association type: UNKNOWN
Gene: PLAT
Disease: Lethal hydranencephaly-diaphragmatic hernia syndrome (ORPHA:480528)
Association type: UNKNOWN
Gene: FOXA2
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: BCL2
Disease: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement (ORPHA:480541)
Association type: UNKNOWN
Gene: BCL2
Disease: Intravascular large B-cell lymphoma; Angioendotheliomatosis proliferans systemisata; Angiotropic large cell lymphoma; Intravascular lymphomatosis; Malignant angioendotheliomatosis; Tappeiner-Pfleger disease (ORPHA:98839)
Association type: UNKNOWN
Gene: BCL2
Disease: Follicular lymphoma (ORPHA:545)
Association type: UNKNOWN
Gene: BCL6
Disease: High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement (ORPHA:480541)
Association type: UNKNOWN
Gene: BCL6
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: BCL6
Disease: Intravascular large B-cell lymphoma; Angioendotheliomatosis proliferans systemisata; Angiotropic large cell lymphoma; Intravascular lymphomatosis; Malignant angioendotheliomatosis; Tappeiner-Pfleger disease (ORPHA:98839)
Association type: UNKNOWN
Gene: BCL6
Disease: Follicular lymphoma (ORPHA:545)
Association type: UNKNOWN
Gene: NDN
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Association type: UNKNOWN
Gene: NDN
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Association type: UNKNOWN
Gene: NDN
Disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Association type: UNKNOWN
Gene: NDN
Disease: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15; UPD(15)mat (ORPHA:98754)
Association type: UNKNOWN
Gene: NAIP
Disease: Proximal spinal muscular atrophy type 2; Intermediate spinal muscular atrophy; SMA type 2; SMA type II; SMA-II; SMA2 (ORPHA:83418)
Association type: UNKNOWN
Gene: NAIP
Disease: Proximal spinal muscular atrophy type 3; Juvenile spinal muscular atrophy; Kugelberg-Welander disease; SMA type 3; SMA type III; SMA-III; SMA3 (ORPHA:83419)
Association type: UNKNOWN
Gene: NAIP
Disease: Proximal spinal muscular atrophy type 1; Infantile spinal muscular atrophy; Infantile-onset spinal muscular atrophy; SMA type 1; SMA type I; SMA-I; SMA1; Werdnig-Hoffmann disease (ORPHA:83330)
Association type: UNKNOWN
Gene: SIX2
Disease: SIX2-related frontonasal dysplasia; SIX2-related FND (ORPHA:488437)
Association type: UNKNOWN
Gene: DUX4L1
Disease: Facioscapulohumeral dystrophy; FSH dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; Landouzy-Dejerine dystrophy; Landouzy-Dejerine myopathy (ORPHA:269)
Association type: UNKNOWN
Gene: DUX4
Disease: Facioscapulohumeral dystrophy; FSH dystrophy; FSHD; Facioscapulohumeral muscular dystrophy; Facioscapulohumeral myopathy; Landouzy-Dejerine dystrophy; Landouzy-Dejerine myopathy (ORPHA:269)
Association type: UNKNOWN
Gene: FIP1L1
Disease: Chronic eosinophilic leukemia (ORPHA:168940)
Association type: UNKNOWN
Gene: FIP1L1
Disease: Primary hypereosinophilic syndrome; Clonal hypereosinophilic syndrome; HES-M; HES-N; Neoplastic hypereosinophilic syndrome; Primary HES (ORPHA:314950)
Association type: UNKNOWN
Gene: FIP1L1
Disease: Acute promyelocytic leukemia; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; APML; Acute myeloblastic leukemia 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants (ORPHA:520)
Association type: UNKNOWN
Gene: KCNJ8
Disease: Cantú syndrome; Congenital hypertrichosis-acromegaloid facial features spectrum; Congenital hypertrichosis-coarse facial features spectrum; Hypertrichotic osteochondrodysplasia (ORPHA:1517)
Association type: UNKNOWN
Gene: KCNJ8
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: RMI2
Disease: Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome (ORPHA:508512)
Association type: UNKNOWN