TaoMedAI/RareMedData huggingface dataset:
Gene: LONP1
Disease: CODAS syndrome; Cerebrooculodentoauriculoskeletal syndrome (ORPHA:1458)
Association type: UNKNOWN
Gene: LONP1
Disease: Congenital diaphragmatic hernia; CDH (ORPHA:2140)
Association type: UNKNOWN
Gene: LONP1
Disease: Pyruvate dehydrogenase E1-alpha deficiency; PDHAD; Pyruvate decarboxylase deficiency; Pyruvate dehydrogenase complex E1 component subunit alpha deficiency (ORPHA:79243)
Association type: UNKNOWN
Gene: NSMCE2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NSMCE2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NSMCE2
Disease: SECKEL SYNDROME 10 (OMIM:617253)
Association type: MENDELIAN
Gene: NSMCE2
Disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Association type: UNKNOWN
Gene: SLC35D1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC35D1
Disease: SCHNECKENBECKEN DYSPLASIA (OMIM:269250)
Association type: MENDELIAN
Gene: SLC35D1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC35D1
Disease: Schneckenbecken dysplasia; Chondrodysplasia with snail-like pelvis; SLC35D1-CDG (ORPHA:3144)
Association type: UNKNOWN
Gene: IGF1R
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IGF1R
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IGF1R
Disease: INSULIN-LIKE GROWTH FACTOR I, RESISTANCE TO (OMIM:270450)
Association type: MENDELIAN
Gene: IGF1R
Disease: Growth delay due to insulin-like growth factor I resistance; Resistance to IGF-1 (ORPHA:73273)
Association type: UNKNOWN
Gene: CRIPT
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CRIPT
Disease: SHORT STATURE WITH MICROCEPHALY AND DISTINCTIVE FACIES (OMIM:615789)
Association type: MENDELIAN
Gene: CRIPT
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MYH3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MYH3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MYH3
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B3 (OMIM:618436)
Association type: MENDELIAN
Gene: MYH3
Disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1A (OMIM:178110)
Association type: MENDELIAN
Gene: MYH3
Disease: CONTRACTURES, PTERYGIA, AND SPONDYLOCARPOTARSAL FUSION SYNDROME 1B (OMIM:618469)
Association type: MENDELIAN
Gene: MYH3
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2A (OMIM:193700)
Association type: MENDELIAN
Gene: MYH3
Disease: Autosomal dominant multiple pterygium syndrome; Distal arthrogryposis type 8 (ORPHA:65743)
Association type: UNKNOWN
Gene: MYH3
Disease: Spondylocarpotarsal synostosis; Synspondylism (ORPHA:3275)
Association type: UNKNOWN
Gene: MYH3
Disease: Freeman-Sheldon syndrome; Craniocarpotarsal dysplasia; Craniocarpotarsal dystrophy; Distal arthrogryposis type 2A; Freeman-Burian syndrome; Whistling face syndrome (ORPHA:2053)
Association type: UNKNOWN
Gene: MYH3
Disease: Sheldon-Hall syndrome; DA2B; Distal arthrogryposis multiplex congenita type 2B; Distal arthrogryposis type 2B; Freeman-Sheldon syndrome variant; SSH (ORPHA:1147)
Association type: UNKNOWN
Gene: MYH3
Disease: Distal arthrogryposis type 1; DA1; Digitotalar dysmorphism (ORPHA:1146)
Association type: UNKNOWN
Gene: MYH3
Disease: Autosomal recessive multiple pterygium syndrome; Autosomal recessive non-lethal multiple pterygium syndrome; EVMPS; Escobar syndrome; Escobar variant multiple pterygium syndrome (ORPHA:2990)
Association type: UNKNOWN
Gene: GALNT3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GALNT3
Disease: TUMORAL CALCINOSIS, HYPERPHOSPHATEMIC, FAMILIAL, 1 (OMIM:211900)
Association type: MENDELIAN
Gene: GALNT3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GALNT3
Disease: Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome; Hypercalcemic tumoral calcinosis (ORPHA:306661)
Association type: UNKNOWN
Gene: TGDS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TGDS
Disease: CATEL-MANZKE SYNDROME (OMIM:616145)
Association type: MENDELIAN
Gene: TGDS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TGDS
Disease: Catel-Manzke syndrome; Hyperphalangy-clinodactyly of index finger with Pierre Robin syndrome; Index finger anomaly-Pierre Robin syndrome; Micrognathia digital syndrome; Palatodigital syndrome, Catel-Manzke type; Pierre Robin sequence-hyperphalangy-clinodactyly syndrome; Pierre Robin syndrome-hyperphalangy-clinodactyly syndrome (ORPHA:1388)
Association type: UNKNOWN
Gene: SFRP4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SFRP4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SFRP4
Disease: PYLE DISEASE (OMIM:265900)
Association type: MENDELIAN
Gene: SFRP4
Disease: Pyle disease; Metaphyseal dysplasia, Pyle type; SFRP4-related Pyle disease (ORPHA:3005)
Association type: UNKNOWN
Gene: ORC4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ORC4
Disease: MEIER-GORLIN SYNDROME 2 (OMIM:613800)
Association type: MENDELIAN
Gene: ORC4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ORC4
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: PITX2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PITX2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PITX2
Disease: RING DERMOID OF CORNEA (OMIM:180550)
Association type: MENDELIAN
Gene: PITX2
Disease: AXENFELD-RIEGER SYNDROME, TYPE 1 (OMIM:180500)
Association type: MENDELIAN
Gene: PITX2
Disease: ANTERIOR SEGMENT DYSGENESIS 4 (OMIM:137600)
Association type: MENDELIAN
Gene: PITX2
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: PITX2
Disease: Axenfeld-Rieger syndrome; Axenfeld syndrome; Rieger syndrome (ORPHA:782)
Association type: UNKNOWN
Gene: PITX2
Disease: Axenfeld anomaly (ORPHA:98978)
Association type: UNKNOWN
Gene: PITX2
Disease: Ring dermoid of cornea; Ring dermoid syndrome (ORPHA:91481)
Association type: UNKNOWN
Gene: PITX2
Disease: Rieger anomaly (ORPHA:91483)
Association type: UNKNOWN
Gene: PITX2
Disease: Peters anomaly; Peters congenital glaucoma (ORPHA:708)
Association type: UNKNOWN
Gene: AGA
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: AGA
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: AGA
Disease: ASPARTYLGLUCOSAMINURIA (OMIM:208400)
Association type: MENDELIAN
Gene: AGA
Disease: Aspartylglucosaminuria; Aspartylglucosaminidase deficiency (ORPHA:93)
Association type: UNKNOWN
Gene: RUNX2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RUNX2
Disease: METAPHYSEAL DYSPLASIA WITH MAXILLARY HYPOPLASIA WITH OR WITHOUT BRACHYDACTYLY (OMIM:156510)
Association type: MENDELIAN
Gene: RUNX2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RUNX2
Disease: CLEIDOCRANIAL DYSPLASIA (OMIM:119600)
Association type: MENDELIAN
Gene: RUNX2
Disease: Cleidocranial dysplasia; Cleidocranial dysostosis (ORPHA:1452)
Association type: UNKNOWN
Gene: RUNX2
Disease: Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome (ORPHA:2504)
Association type: UNKNOWN
Gene: HOXA11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HOXA11
Disease: RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 1 (OMIM:605432)
Association type: MENDELIAN
Gene: HOXA11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HOXA11
Disease: Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome; ATRUS syndrome (ORPHA:71289)
Association type: UNKNOWN
Gene: PITX1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PITX1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PITX1
Disease: CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY (OMIM:119800)
Association type: MENDELIAN
Gene: PITX1
Disease: Brachydactyly-elbow wrist dysplasia syndrome; Brachydactyly-joint dysplasia syndrome; Liebenberg syndrome (ORPHA:1275)
Association type: UNKNOWN
Gene: PITX1
Disease: Familial clubfoot due to 5q31 microdeletion; Hereditary clubfoot due to 5q31 microdeletion (ORPHA:293144)
Association type: UNKNOWN
Gene: PITX1
Disease: Familial clubfoot due to PITX1 point mutation; Hereditary clubfoot due to PITX1 point mutation (ORPHA:293150)
Association type: UNKNOWN
Gene: PITX1
Disease: Mirror-image polydactyly (ORPHA:498494)
Association type: UNKNOWN
Gene: CENPE
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CENPE
Disease: MICROCEPHALY 13, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:616051)
Association type: MENDELIAN
Gene: CENPE
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CENPE
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: CENPE
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: VDR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: VDR
Disease: VITAMIN D-DEPENDENT RICKETS, TYPE 2A (OMIM:277440)
Association type: MENDELIAN
Gene: VDR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: VDR
Disease: Hypocalcemic vitamin D-resistant rickets; HVDRR; Hereditary vitamin D-resistant rickets; VDDR II; VDRR II; Vitamin D-dependent rickets type II; Vitamin D-resistant rickets type II (ORPHA:93160)
Association type: UNKNOWN
Gene: LMX1B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LMX1B
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 10 (OMIM:256020)
Association type: MENDELIAN
Gene: LMX1B
Disease: NAIL-PATELLA SYNDROME (OMIM:161200)
Association type: MENDELIAN
Gene: LMX1B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LMX1B
Disease: 9q33.3q34.11 microdeletion syndrome; Del(9)(q33.3q34.11); Deletion 9q33.3q34.11; Monosomy 9q33.3q34.11 (ORPHA:495818)
Association type: UNKNOWN
Gene: LMX1B
Disease: Nail-patella-like renal disease; Salcedo syndrome (ORPHA:2613)
Association type: UNKNOWN
Gene: LMX1B
Disease: Nail-patella syndrome; Onychoosteodysplasia; Turner-Kieser syndrome (ORPHA:2614)
Association type: UNKNOWN
Gene: IFT52
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT52
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFT52
Disease: SHORT-RIB THORACIC DYSPLASIA 16 WITH OR WITHOUT POLYDACTYLY (OMIM:617102)
Association type: MENDELIAN
Gene: IFT52
Disease: Cranioectodermal dysplasia; CED; Sensenbrenner syndrome (ORPHA:1515)
Association type: UNKNOWN
Gene: SMOC2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMOC2
Disease: DENTIN DYSPLASIA, TYPE I (OMIM:125400)
Association type: MENDELIAN
Gene: SMOC2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMOC2
Disease: Atypical dentin dysplasia due to SMOC2 deficiency; Dentin dysplasia type 1 with microdontia and shape anomalies (ORPHA:314721)
Association type: UNKNOWN
Gene: FUZ
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FUZ
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Association type: POLYGENIC
Gene: FUZ
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FUZ
Disease: Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal dysplasia; Caudal regression sequence (ORPHA:3027)
Association type: UNKNOWN
Gene: FUZ
Disease: Non-syndromic non-specific multisutural craniosynostosis; Isolated non-specific multisutural craniosynostosis; Non-syndromic non-specific multiple suture synostosis (ORPHA:620158)
Association type: UNKNOWN
Gene: VPS33A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: VPS33A
Disease: MUCOPOLYSACCHARIDOSIS-PLUS SYNDROME (OMIM:617303)
Association type: MENDELIAN
Gene: VPS33A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: VPS33A
Disease: Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders; Mucopolysaccharidosis-like plus disease (ORPHA:505248)
Association type: UNKNOWN
Gene: EXTL3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EXTL3
Disease: IMMUNOSKELETAL DYSPLASIA WITH NEURODEVELOPMENTAL ABNORMALITIES (OMIM:617425)
Association type: MENDELIAN
Gene: EXTL3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EXTL3
Disease: Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome; EXTL3-related neuro-immuno-skeletal dysplasia syndrome; Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency (ORPHA:508533)
Association type: UNKNOWN
Gene: FMN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FMN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POP1
Disease: ANAUXETIC DYSPLASIA 2 (OMIM:617396)
Association type: MENDELIAN
Gene: POP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POP1
Disease: Anauxetic dysplasia; Spondyloepimetaphyseal dysplasia, Menger type; Spondyloepimetaphyseal dysplasia, anauxetic type (ORPHA:93347)
Association type: UNKNOWN
Gene: ID4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ID4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NIN
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NIN
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NIN
Disease: SECKEL SYNDROME 7 (OMIM:614851)
Association type: MENDELIAN
Gene: NIN
Disease: Microcephalic primordial dwarfism, Dauber type (ORPHA:319675)
Association type: UNKNOWN
Gene: GPR161
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GPR161
Disease: MEDULLOBLASTOMA (OMIM:155255)
Association type: POLYGENIC
Gene: GPR161
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GPR161
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: HDAC4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HDAC4
Disease: CHROMOSOME 2q37 DELETION SYNDROME (OMIM:600430)
Association type: MENDELIAN
Gene: HDAC4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HDAC4
Disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES (OMIM:619797)
Association type: MENDELIAN
Gene: HDAC4
Disease: 2q37 microdeletion syndrome; Albright hereditary osteodystrophy type 3; Albright hereditary osteodystrophy-like syndrome; Brachydactyly-intellectual disability syndrome; Del(2)(q37); Deletion 2q37; Monosomy 2q37qter (ORPHA:1001)
Association type: UNKNOWN
Gene: RBBP8
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RBBP8
Disease: SECKEL SYNDROME 2 (OMIM:606744)
Association type: MENDELIAN
Gene: RBBP8
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RBBP8
Disease: JAWAD SYNDROME (OMIM:251255)
Association type: MENDELIAN
Gene: RBBP8
Disease: Jawad syndrome (ORPHA:313795)
Association type: UNKNOWN
Gene: RBBP8
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: POLL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WNT6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ORC6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ORC6
Disease: MEIER-GORLIN SYNDROME 3 (OMIM:613803)
Association type: MENDELIAN
Gene: ORC6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ORC6
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: ZBTB16
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ZBTB16
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ZBTB16
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: ZBTB16
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: IDH2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IDH2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IDH2
Disease: D-2-HYDROXYGLUTARIC ACIDURIA 2 (OMIM:613657)
Association type: MENDELIAN
Gene: IDH2
Disease: Protoplasmic astrocytoma (ORPHA:251598)
Association type: UNKNOWN
Gene: IDH2
Disease: Anaplastic astrocytoma (ORPHA:251589)
Association type: UNKNOWN
Gene: IDH2
Disease: Ollier disease; Enchondromatosis Spranger type I; Multiple Enchondromatosis type I; Multiple Enchondromatosis, Ollier type (ORPHA:296)
Association type: UNKNOWN
Gene: IDH2
Disease: Acute myeloid leukaemia with myelodysplasia-related features; AML with multilineage dysplasia; AML with myelodysplasia-related features; Acute myeloid leukemia with multilineage dysplasia (ORPHA:86845)
Association type: UNKNOWN
Gene: IDH2
Disease: Maffucci syndrome; Enchondromatosis Spranger type II; Multiple Enchondromatosis type II; Multiple Enchondromatosis, Maffucci Type (ORPHA:163634)
Association type: UNKNOWN
Gene: IDH2
Disease: D-2-hydroxyglutaric aciduria; D-2-HGA; D-2-hydroxyglutaric acidemia (ORPHA:79315)
Association type: UNKNOWN
Gene: IDH2
Disease: Anaplastic oligoastrocytoma; aMOA (ORPHA:251663)
Association type: UNKNOWN
Gene: IDH2
Disease: Oligoastrocytoma; MOA; Mixed oligoastrocytoma (ORPHA:251656)
Association type: UNKNOWN
Gene: IDH2
Disease: Oligodendroglioma (ORPHA:251627)
Association type: UNKNOWN
Gene: IDH2
Disease: Anaplastic oligodendroglioma (ORPHA:251630)
Association type: UNKNOWN
Gene: IDH2
Disease: Gemistocytic astrocytoma (ORPHA:251604)
Association type: UNKNOWN
Gene: IDH2
Disease: Fibrillary astrocytoma (ORPHA:251601)
Association type: UNKNOWN
Gene: HES7
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HES7
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HES7
Disease: SPONDYLOCOSTAL DYSOSTOSIS 4, AUTOSOMAL RECESSIVE (OMIM:613686)
Association type: MENDELIAN
Gene: HES7
Disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Association type: UNKNOWN
Gene: GNPTAB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNPTAB
Disease: MUCOLIPIDOSIS II ALPHA/BETA (OMIM:252500)
Association type: MENDELIAN
Gene: GNPTAB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GNPTAB
Disease: MUCOLIPIDOSIS III ALPHA/BETA (OMIM:252600)
Association type: MENDELIAN
Gene: GNPTAB
Disease: Mucolipidosis type III alpha/beta; ML 3 alpha/beta; ML III alpha/beta; Mucolipidosis type 3 alpha/beta (ORPHA:423461)
Association type: UNKNOWN
Gene: GNPTAB
Disease: Mucolipidosis type II; I-cell disease; Mucolipidosis type II alpha/beta; N-acetylglucosamine 1-phosphotransferase deficiency (ORPHA:576)
Association type: UNKNOWN
Gene: CEP152
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CEP152
Disease: SECKEL SYNDROME 5 (OMIM:613823)
Association type: MENDELIAN
Gene: CEP152
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CEP152
Disease: MICROCEPHALY 9, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:614852)
Association type: MENDELIAN
Gene: CEP152
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: CEP152
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: MMP14
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MMP14
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MMP14
Disease: WINCHESTER SYNDROME (OMIM:277950)
Association type: MENDELIAN
Gene: MMP14
Disease: Multicentric osteolysis-nodulosis-arthropathy spectrum; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Torg-Winchester syndrome (ORPHA:371428)
Association type: UNKNOWN
Gene: DLX6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DLX6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DLX6
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: TTC21B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TTC21B
Disease: SHORT-RIB THORACIC DYSPLASIA 4 WITH OR WITHOUT POLYDACTYLY (OMIM:613819)
Association type: MENDELIAN
Gene: TTC21B
Disease: NEPHRONOPHTHISIS 12 (OMIM:613820)
Association type: MENDELIAN
Gene: TTC21B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TTC21B
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: TTC21B
Disease: Infantile nephronophthisis; Autosomal recessive infantile NPHP; Autosomal recessive infantile nephronophthisis (ORPHA:93591)
Association type: UNKNOWN
Gene: IL6ST
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IL6ST
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IL6ST
Disease: HYPER-IgE RECURRENT INFECTION SYNDROME 4, AUTOSOMAL RECESSIVE (OMIM:618523)
Association type: MENDELIAN
Gene: IL6ST
Disease: STUVE-WIEDEMANN SYNDROME 2 (OMIM:619751)
Association type: MENDELIAN
Gene: IL6ST
Disease: HYPER-IgE SYNDROME 4A, AUTOSOMAL DOMINANT, WITH RECURRENT INFECTIONS (OMIM:619752)
Association type: MENDELIAN
Gene: IL6ST
Disease: IMMUNODEFICIENCY 94 WITH AUTOINFLAMMATION AND DYSMORPHIC FACIES (OMIM:619750)
Association type: MENDELIAN
Gene: IL6ST
Disease: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency; AR CID due to partial GP130 deficiency; AR CID due to partial IL6ST deficiency; Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency; Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency (ORPHA:656300)
Association type: UNKNOWN
Gene: IL6ST
Disease: Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency; AD CID due to  partial GP130 deficiency; AD CID due to  partial IL6ST deficiency; Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency; Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency (ORPHA:656313)
Association type: UNKNOWN
Gene: IL6ST
Disease: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency; AR CID due to complete GP130 deficiency; AR CID due to complete IL6ST deficiency; Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency; Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency; Stüve-Wiedemann syndrome type 2 (ORPHA:656283)
Association type: UNKNOWN
Gene: ACP5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ACP5
Disease: SPONDYLOENCHONDRODYSPLASIA WITH IMMUNE DYSREGULATION (OMIM:607944)
Association type: MENDELIAN