TaoMedAI/RareMedData huggingface dataset:
Gene: HSPB1
Disease: Distal hereditary motor neuropathy type 2; Distal spinal muscular atrophy type 2; dHMN2; dSMA2 (ORPHA:139525)
Association type: UNKNOWN
Gene: MXI1
Disease: PROSTATE CANCER (OMIM:176807)
Association type: MENDELIAN
Gene: KLF6
Disease: PROSTATE CANCER (OMIM:176807)
Association type: MENDELIAN
Gene: KLF6
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: TUBB
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 6 (OMIM:615771)
Association type: MENDELIAN
Gene: TUBB
Disease: SKIN CREASES, CONGENITAL SYMMETRIC CIRCUMFERENTIAL, 1 (OMIM:156610)
Association type: MENDELIAN
Gene: TUBB
Disease: Multiple benign circumferential skin creases on limbs; CCSF; Circumferential skin creases, Kunze type; Congenital circumferential skin folds; Kunze-Riehm syndrome (ORPHA:2505)
Association type: UNKNOWN
Gene: NUP155
Disease: ATRIAL FIBRILLATION, FAMILIAL, 15 (OMIM:615770)
Association type: MENDELIAN
Gene: NUP155
Disease: Familial atrial fibrillation (ORPHA:334)
Association type: UNKNOWN
Gene: ATP13A3
Disease: PULMONARY HYPERTENSION, PRIMARY, 5 (OMIM:265400)
Association type: MENDELIAN
Gene: ATP13A3
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: TUBB1
Disease: MACROTHROMBOCYTOPENIA, AUTOSOMAL DOMINANT, TUBB1-RELATED (OMIM:613112)
Association type: MENDELIAN
Gene: TUBB1
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: ZP1
Disease: OOCYTE MATURATION DEFECT 1 (OMIM:615774)
Association type: MENDELIAN
Gene: ZP1
Disease: Female infertility due to zona pellucida defect (ORPHA:404466)
Association type: UNKNOWN
Gene: HRG
Disease: THROMBOPHILIA DUE TO HISTIDINE-RICH GLYCOPROTEIN DEFICIENCY (OMIM:613116)
Association type: MENDELIAN
Gene: HRG
Disease: Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency; Hereditary thrombophilia due to congenital HRG deficiency (ORPHA:217467)
Association type: UNKNOWN
Gene: CCN6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CCN6
Disease: PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA (OMIM:208230)
Association type: MENDELIAN
Gene: CCN6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CCN6
Disease: Progressive pseudorheumatoid dysplasia; PPD; Progressive pseudorheumatoid arthropathy of childhood; Spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome (ORPHA:1159)
Association type: UNKNOWN
Gene: RBM8A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RBM8A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RBM8A
Disease: THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME (OMIM:274000)
Association type: MENDELIAN
Gene: RBM8A
Disease: Thrombocytopenia-absent radius syndrome; TAR syndrome (ORPHA:3320)
Association type: UNKNOWN
Gene: CHSY1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CHSY1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CHSY1
Disease: TEMTAMY PREAXIAL BRACHYDACTYLY SYNDROME (OMIM:605282)
Association type: MENDELIAN
Gene: CHSY1
Disease: Temtamy preaxial brachydactyly syndrome (ORPHA:363417)
Association type: UNKNOWN
Gene: CDT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDT1
Disease: MEIER-GORLIN SYNDROME 4 (OMIM:613804)
Association type: MENDELIAN
Gene: CDT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDT1
Disease: Ear-patella-short stature syndrome; Meier-Gorlin syndrome (ORPHA:2554)
Association type: UNKNOWN
Gene: IFT80
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT80
Disease: SHORT-RIB THORACIC DYSPLASIA 2 WITH OR WITHOUT POLYDACTYLY (OMIM:611263)
Association type: MENDELIAN
Gene: IFT80
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFT80
Disease: Short rib-polydactyly syndrome, Verma-Naumoff type; Short rib-polydactyly syndrome type 3 (ORPHA:93271)
Association type: UNKNOWN
Gene: IFT80
Disease: Short rib-polydactyly syndrome, Beemer-Langer type; Short rib-polydactyly syndrome type 4 (ORPHA:93268)
Association type: UNKNOWN
Gene: IFT80
Disease: Jeune syndrome; Asphyxiating thoracic dystrophy of the newborn; JATD; Jeune asphyxiating thoracic dystrophy (ORPHA:474)
Association type: UNKNOWN
Gene: RAC3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RAC3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RAC3
Disease: NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES (OMIM:618577)
Association type: MENDELIAN
Gene: RAC3
Disease: Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome; RAC3-related syndrome (ORPHA:659609)
Association type: UNKNOWN
Gene: RAC3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: SLC25A24
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC25A24
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC25A24
Disease: FONTAINE PROGEROID SYNDROME (OMIM:612289)
Association type: MENDELIAN
Gene: SLC25A24
Disease: Progeroid syndrome, Petty type; Fontaine progeroid syndrome; Petty syndrome; Petty-Laxova-Wiedemann syndrome (ORPHA:2963)
Association type: UNKNOWN
Gene: SLC25A24
Disease: Gorlin-Chaudhry-Moss syndrome; Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome; Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome; Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome; GCM syndrome (ORPHA:2095)
Association type: UNKNOWN
Gene: HDAC8
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HDAC8
Disease: CORNELIA DE LANGE SYNDROME 5 (OMIM:300882)
Association type: MENDELIAN
Gene: HDAC8
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HDAC8
Disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Association type: UNKNOWN
Gene: HDAC8
Disease: Wilson-Turner syndrome; WTS; X-linked intellectual disability-gynecomastia-obesity syndrome (ORPHA:3459)
Association type: UNKNOWN
Gene: NPPC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NPPC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BTRC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: BTRC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: BTRC
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: CCNQ
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CCNQ
Disease: TOE SYNDACTYLY, TELECANTHUS, AND ANOGENITAL AND RENAL MALFORMATIONS (OMIM:300707)
Association type: MENDELIAN
Gene: CCNQ
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CCNQ
Disease: Syndactyly-telecanthus-anogenital and renal malformations syndrome; STAR syndrome (ORPHA:140952)
Association type: UNKNOWN
Gene: MTAP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MTAP
Disease: DIAPHYSEAL MEDULLARY STENOSIS WITH MALIGNANT FIBROUS HISTIOCYTOMA (OMIM:112250)
Association type: MENDELIAN
Gene: MTAP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MTAP
Disease: Diaphyseal medullary stenosis-bone malignancy syndrome; Bone dysplasia-medullary fibrosarcoma syndrome; Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome; Hardcastle syndrome (ORPHA:85182)
Association type: UNKNOWN
Gene: GNPAT
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNPAT
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GNPAT
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2 (OMIM:222765)
Association type: MENDELIAN
Gene: GNPAT
Disease: Rhizomelic chondrodysplasia punctata type 2 (ORPHA:309796)
Association type: UNKNOWN
Gene: PDE3A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PDE3A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PDE3A
Disease: HYPERTENSION AND BRACHYDACTYLY SYNDROME (OMIM:112410)
Association type: MENDELIAN
Gene: PDE3A
Disease: Brachydactyly-arterial hypertension syndrome; Bilginturan brachydactyly; Bilginturan syndrome; Brachydactyly type E, with short stature and hypertension (ORPHA:1276)
Association type: UNKNOWN
Gene: DYNLT2B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DYNLT2B
Disease: SHORT-RIB THORACIC DYSPLASIA 17 WITH OR WITHOUT POLYDACTYLY (OMIM:617405)
Association type: MENDELIAN
Gene: DYNLT2B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ACVR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ACVR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ACVR1
Disease: FIBRODYSPLASIA OSSIFICANS PROGRESSIVA (OMIM:135100)
Association type: MENDELIAN
Gene: ACVR1
Disease: Fibrodysplasia ossificans progressiva; FOP; Myositis ossificans progressiva; Stone man syndrome (ORPHA:337)
Association type: UNKNOWN
Gene: MEGF8
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MEGF8
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MEGF8
Disease: CARPENTER SYNDROME 2 (OMIM:614976)
Association type: MENDELIAN
Gene: MEGF8
Disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Association type: UNKNOWN
Gene: FBXW4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FBXW4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FBXW4
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: IARS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IARS2
Disease: CATARACTS, GROWTH HORMONE DEFICIENCY, SENSORY NEUROPATHY, SENSORINEURAL HEARING LOSS, AND SKELETAL DYSPLASIA (OMIM:616007)
Association type: MENDELIAN
Gene: IARS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IARS2
Disease: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome; CAGSSS (ORPHA:436174)
Association type: UNKNOWN
Gene: IARS2
Disease: Leigh syndrome; Infantile subacute necrotizing encephalopathy; Leigh disease (ORPHA:506)
Association type: UNKNOWN
Gene: FAM20B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FAM20B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ARCN1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ARCN1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ARCN1
Disease: SHORT STATURE, RHIZOMELIC, WITH MICROCEPHALY, MICROGNATHIA, AND DEVELOPMENTAL DELAY (OMIM:617164)
Association type: MENDELIAN
Gene: ARCN1
Disease: Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome; ARCN1-related syndrome (ORPHA:659702)
Association type: UNKNOWN
Gene: GDF3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GDF3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GDF3
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Association type: MENDELIAN
Gene: GDF3
Disease: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:613702)
Association type: MENDELIAN
Gene: GDF3
Disease: MICROPHTHALMIA, ISOLATED 7 (OMIM:613704)
Association type: MENDELIAN
Gene: GDF3
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: GDF3
Disease: Isolated Klippel-Feil syndrome; Congenital cervical vertebral fusion; Congenital fused cervical segments; Klippel-Feil malformation; Klippel-Feil sequence (ORPHA:2345)
Association type: UNKNOWN
Gene: RREB1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RREB1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RREB1
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: CTSK
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CTSK
Disease: PYCNODYSOSTOSIS (OMIM:265800)
Association type: MENDELIAN
Gene: CTSK
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CTSK
Disease: Pycnodysostosis; Pyknodysostosis (ORPHA:763)
Association type: UNKNOWN
Gene: SLC39A13
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC39A13
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC39A13
Disease: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 3 (OMIM:612350)
Association type: MENDELIAN
Gene: SLC39A13
Disease: SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome; SCD-EDS; SLC39A13-related spEDS; SLC39A13-related spondylodysplastic EDS; Spondylocheirodysplastic Ehlers-Danlos syndrome; spEDS-SLC39A13 (ORPHA:157965)
Association type: UNKNOWN
Gene: RAB23
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RAB23
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RAB23
Disease: CARPENTER SYNDROME 1 (OMIM:201000)
Association type: MENDELIAN
Gene: RAB23
Disease: Carpenter syndrome; ACPS2; Acrocephalopolysyndactyly type 2 (ORPHA:65759)
Association type: UNKNOWN
Gene: SULF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SULF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SH3BP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SH3BP2
Disease: CHERUBISM (OMIM:118400)
Association type: MENDELIAN
Gene: SH3BP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SH3BP2
Disease: Cherubism; CRBM (ORPHA:184)
Association type: UNKNOWN
Gene: MIR140
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MIR140
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MIR140
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE (OMIM:618618)
Association type: MENDELIAN
Gene: MIR140
Disease: MIR140-related spondyloepiphyseal dysplasia; MIR140-related SED; Spondyloepiphyseal dysplasia with severe brachydactyly and cone-shaped epiphyses (ORPHA:623695)
Association type: UNKNOWN
Gene: GINS2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GINS2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EFNB1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EFNB1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EFNB1
Disease: CRANIOFRONTONASAL SYNDROME (OMIM:304110)
Association type: MENDELIAN
Gene: EFNB1
Disease: Craniofrontonasal dysplasia; CFND; CFNS; Craniofrontonasal syndrome (ORPHA:1520)
Association type: UNKNOWN
Gene: IGSF1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IGSF1
Disease: HYPOTHYROIDISM, CENTRAL, WITH TESTICULAR ENLARGEMENT (OMIM:300888)
Association type: MENDELIAN
Gene: IGSF1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IGSF1
Disease: X-linked central congenital hypothyroidism with late-onset testicular enlargement; IGSF1 deficiency syndrome; X-linked central congenital hypothyroidism with late-onset macroorchidism (ORPHA:329235)
Association type: UNKNOWN
Gene: COG1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COG1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIg (OMIM:611209)
Association type: MENDELIAN
Gene: COG1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COG1
Disease: COG1-CDG; CDG syndrome type IIg; CDG-IIg; CDG2G; Carbohydrate deficient glycoprotein syndrome type IIg; Congenital disorder of glycosylation type 2g; Congenital disorder of glycosylation type IIg (ORPHA:263508)
Association type: UNKNOWN
Gene: DPCD
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DPCD
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLR1D
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POLR1D
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POLR1D
Disease: TREACHER COLLINS SYNDROME 2 (OMIM:613717)
Association type: MENDELIAN
Gene: POLR1D
Disease: Treacher-Collins syndrome; Franceschetti-Klein syndrome; Mandibulofacial dysostosis without limb anomalies (ORPHA:861)
Association type: UNKNOWN
Gene: MEOX1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MEOX1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MEOX1
Disease: KLIPPEL-FEIL SYNDROME 2, AUTOSOMAL RECESSIVE (OMIM:214300)
Association type: MENDELIAN
Gene: MEOX1
Disease: Isolated Klippel-Feil syndrome; Congenital cervical vertebral fusion; Congenital fused cervical segments; Klippel-Feil malformation; Klippel-Feil sequence (ORPHA:2345)
Association type: UNKNOWN
Gene: APC2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: APC2
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10 (OMIM:618677)
Association type: MENDELIAN
Gene: APC2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: APC2
Disease: SOTOS SYNDROME 3 (OMIM:617169)
Association type: MENDELIAN
Gene: APC2
Disease: Sotos syndrome; Cerebral gigantism (ORPHA:821)
Association type: UNKNOWN
Gene: ZMPSTE24
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ZMPSTE24
Disease: MANDIBULOACRAL DYSPLASIA WITH TYPE B LIPODYSTROPHY (OMIM:608612)
Association type: MENDELIAN
Gene: ZMPSTE24
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ZMPSTE24
Disease: RESTRICTIVE DERMOPATHY, LETHAL (OMIM:275210)
Association type: MENDELIAN
Gene: ZMPSTE24
Disease: Hutchinson-Gilford progeria syndrome; HGPS; Progeria (ORPHA:740)
Association type: UNKNOWN
Gene: ZMPSTE24
Disease: Mandibuloacral dysplasia with type B lipodystrophy (ORPHA:90154)
Association type: UNKNOWN
Gene: ZMPSTE24
Disease: Restrictive dermopathy; Lethal hyperkeratosis-contracture syndrome; Lethal restrictive dermopathy; Lethal tight skin-contracture syndrome (ORPHA:1662)
Association type: UNKNOWN
Gene: SATB2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SATB2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SATB2
Disease: GLASS SYNDROME (OMIM:612313)
Association type: MENDELIAN
Gene: SATB2
Disease: SATB2-associated syndrome due to a pathogenic variant; SATB2-associated syndrome due to a point mutation (ORPHA:576283)
Association type: UNKNOWN
Gene: SATB2
Disease: SATB2-associated syndrome due to a chromosomal rearrangement; 2q33.1 microdeletion syndrome; Del(2)(q33.1); Monosomy 2q33.1 (ORPHA:251028)
Association type: UNKNOWN
Gene: SATB2
Disease: 2q32q33 microdeletion syndrome; Del(2)(q32); Del(2)(q32q33); Monosomy 2q32; Monosomy 2q32q33 (ORPHA:251019)
Association type: UNKNOWN
Gene: COL10A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: COL10A1
Disease: METAPHYSEAL CHONDRODYSPLASIA, SCHMID TYPE (OMIM:156500)
Association type: MENDELIAN
Gene: COL10A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: COL10A1
Disease: Metaphyseal chondrodysplasia, Schmid type (ORPHA:174)
Association type: UNKNOWN
Gene: ANKH
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ANKH
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ANKH
Disease: CHONDROCALCINOSIS 2 (OMIM:118600)
Association type: MENDELIAN
Gene: ANKH
Disease: CRANIOMETAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:123000)
Association type: MENDELIAN
Gene: ANKH
Disease: Familial calcium pyrophosphate deposition; Calcium pyrophosphate dihydrate crystal deposition disease; Familial CC; Familial CPPD; Familial articular chondrocalcinosis; Hereditary CC; Hereditary articular chondrocalcinosis; Hereditary calcium pyrophosphate deposition (ORPHA:1416)
Association type: UNKNOWN
Gene: ANKH
Disease: Craniometaphyseal dysplasia (ORPHA:1522)
Association type: UNKNOWN
Gene: SLCO5A1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLCO5A1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CHST14
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CHST14
Disease: EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1 (OMIM:601776)
Association type: MENDELIAN
Gene: CHST14
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CHST14
Disease: Musculocontractural Ehlers-Danlos syndrome; Adducted thumb-clubfoot syndrome; Distal arthrogryposis with peculiar facies and hydronephrosis; Dündar syndrome; Ehlers-Danlos syndrome, Kosho type; Musculocontractural EDS; mcEDS (ORPHA:2953)
Association type: UNKNOWN
Gene: TONSL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TONSL
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, SPONASTRIME TYPE (OMIM:271510)
Association type: MENDELIAN
Gene: TONSL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TONSL
Disease: SPONASTRIME dysplasia; Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia; Spondyloepimetaphyseal dysplasia, Sponastrime type (ORPHA:93357)
Association type: UNKNOWN
Gene: ARHGAP31
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ARHGAP31
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ARHGAP31
Disease: ADAMS-OLIVER SYNDROME 1 (OMIM:100300)
Association type: MENDELIAN
Gene: ARHGAP31
Disease: Adams-Oliver syndrome; AOS; Aplasia cutis congenita with distal limb anomalies; Aplasia cutis congenita with terminal transverse limb defects; Congenital scalp defects with distal limb anomalies; Congenital scalp defects with distal limb reduction anomalies (ORPHA:974)
Association type: UNKNOWN
Gene: PCNT
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PCNT
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PCNT
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II (OMIM:210720)
Association type: MENDELIAN
Gene: PCNT
Disease: Microcephalic osteodysplastic primordial dwarfism type II; MOPD type II; Majewski osteodysplastic primordial dwarfism type II (ORPHA:2637)
Association type: UNKNOWN
Gene: PCNT
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: RPL13
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RPL13
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE (OMIM:618728)
Association type: MENDELIAN
Gene: RPL13
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RPL13
Disease: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type; SEMDIST; Spondyloepimetaphyseal dysplasia with severe short stature (ORPHA:370015)
Association type: UNKNOWN
Gene: LONP1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LONP1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LONP1
Disease: CODAS SYNDROME (OMIM:600373)
Association type: MENDELIAN