TaoMedAI/RareMedData huggingface dataset:
Gene: MIR17HG
Disease: Feingold syndrome type 2; Brachydactyly-short stature-microcephaly syndrome; Brunner-Winter syndrome type 2; FGLDS2; FS2; MMT type 2; Microcephaly-digital anomalies-normal intelligence syndrome type 2; Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2 (ORPHA:391646)
Association type: UNKNOWN
Gene: HIC1
Disease: Miller-Dieker syndrome; Lissencephaly due to 17p13.3 deletion; Monosomy 17p13.3; Telomeric deletion 17p (ORPHA:531)
Association type: UNKNOWN
Gene: CTSH
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: P2RY11
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: FOS
Disease: Congenital generalized lipodystrophy; BSCL; Berardinelli-Seip congenital lipodystrophy; Berardinelli-Seip syndrome; CGL; Lipoatrophic diabetes (ORPHA:528)
Association type: UNKNOWN
Gene: FOS
Disease: Epithelioid hemangioma; ALHE; Angiolymphoid hyperplasia with eosinophilia; EH (ORPHA:675396)
Association type: UNKNOWN
Gene: MLLT3
Disease: Acute myeloid leukemia with t(9;11)(p22;q23); AML with t(9;11)(p22;q23) (ORPHA:402017)
Association type: UNKNOWN
Gene: PML
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: NABP1
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: NUMA1
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: DEK
Disease: Acute myeloid leukemia with t(6;9)(p23;q34); AML with t(6;9)(p23;q34) (ORPHA:402014)
Association type: UNKNOWN
Gene: CRIM1
Disease: Colobomatous macrophthalmia-microcornea syndrome; MACOM syndrome (ORPHA:468672)
Association type: UNKNOWN
Gene: FPR1
Disease: Aggressive periodontitis; AgP; Juvenile periodontitis; Susceptibility to localized juvenile periodontitis (ORPHA:447740)
Association type: UNKNOWN
Gene: NAB2
Disease: Solitary fibrous tumor; SFT (ORPHA:2126)
Association type: UNKNOWN
Gene: CLTRN
Disease: Hartnup disease; Aminoaciduria, Hartnup type; Hartnup disorder (ORPHA:2116)
Association type: UNKNOWN
Gene: CHD6
Disease: Hallermann-Streiff syndrome; François dyscephalic syndrome; Oculomandibulofacial syndrome (ORPHA:2108)
Association type: UNKNOWN
Gene: DRD2
Disease: Myoclonus-dystonia syndrome; Alcohol-responsive dystonia; Hereditary essential myoclonus; Myoclonic dystonia (ORPHA:36899)
Association type: UNKNOWN
Gene: NPAT
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: WNT3A
Disease: Idiopathic juvenile osteoporosis; IJO; Juvenile osteoporosis (ORPHA:85193)
Association type: UNKNOWN
Gene: CBY1
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: USP6
Disease: Nodular fasciitis; Pseudosarcomatous fasciitis; Pseudosarcomatous fibromatosis (ORPHA:477742)
Association type: UNKNOWN
Gene: SRP19
Disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Association type: UNKNOWN
Gene: HLX
Disease: Diaphragmatic hernia-short bowel-asplenia syndrome (ORPHA:527468)
Association type: UNKNOWN
Gene: SLC6A18
Disease: Iminoglycinuria (ORPHA:42062)
Association type: UNKNOWN
Gene: SLC6A20
Disease: Iminoglycinuria (ORPHA:42062)
Association type: UNKNOWN
Gene: FOSB
Disease: Epithelioid hemangioma; ALHE; Angiolymphoid hyperplasia with eosinophilia; EH (ORPHA:675396)
Association type: UNKNOWN
Gene: FOSB
Disease: Pseudomyogenic hemangioendothelioma (ORPHA:673556)
Association type: UNKNOWN
Gene: NUTM2E
Disease: Clear cell sarcoma of kidney; CCSK (ORPHA:457246)
Association type: UNKNOWN
Gene: IRX2
Disease: Clear cell sarcoma of kidney; CCSK (ORPHA:457246)
Association type: UNKNOWN
Gene: ATAD3B
Disease: 1p36.33 duplication syndrome (ORPHA:656279)
Association type: UNKNOWN
Gene: ATAD3C
Disease: 1p36.33 duplication syndrome (ORPHA:656279)
Association type: UNKNOWN
Gene: TGFA
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: QKI
Disease: Angiocentric glioma (ORPHA:251671)
Association type: UNKNOWN
Gene: SSUH2
Disease: Dentin dysplasia type I; DD-I; DTDP1; Radicular dentin dysplasia (ORPHA:99789)
Association type: UNKNOWN
Gene: VPS4B
Disease: Dentin dysplasia type I; DD-I; DTDP1; Radicular dentin dysplasia (ORPHA:99789)
Association type: UNKNOWN
Gene: UHRF1
Disease: ICF syndrome; Immunodeficiency-centromeric instability-facial anomalies syndrome; Immunodeficiency-centromeric instability-facial dysmorphism syndrome (ORPHA:2268)
Association type: UNKNOWN
Gene: FLT1
Disease: Preeclampsia (ORPHA:275555)
Association type: UNKNOWN
Gene: SRGAP3
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: ADAMTS9
Disease: Juvenile nephronophthisis (ORPHA:93592)
Association type: UNKNOWN
Gene: FHIT
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: SLC49A4
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: HSPBAP1
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: TGFBR3
Disease: Familial cerebral saccular aneurysm; Familial berry aneurysm; Familial intracranial saccular aneurysm (ORPHA:231160)
Association type: UNKNOWN
Gene: ANGPTL6
Disease: Familial cerebral saccular aneurysm; Familial berry aneurysm; Familial intracranial saccular aneurysm (ORPHA:231160)
Association type: UNKNOWN