TaoMedAI/RareMedData huggingface dataset:
Gene: PDCD10
Disease: Familial cerebral cavernous malformation; Familial brain cavernous angioma; Familial cerebral cavernoma; Hereditary brain cavernous angioma; Hereditary cerebral cavernoma; Hereditary cerebral cavernous malformation (ORPHA:221061)
Association type: UNKNOWN
Gene: CCM2
Disease: CEREBRAL CAVERNOUS MALFORMATIONS 2 (OMIM:603284)
Association type: MENDELIAN
Gene: CCM2
Disease: CEREBRAL CAVERNOUS MALFORMATIONS (OMIM:116860)
Association type: MENDELIAN
Gene: CCM2
Disease: Familial cerebral cavernous malformation; Familial brain cavernous angioma; Familial cerebral cavernoma; Hereditary brain cavernous angioma; Hereditary cerebral cavernoma; Hereditary cerebral cavernous malformation (ORPHA:221061)
Association type: UNKNOWN
Gene: ACTN4
Disease: FOCAL SEGMENTAL GLOMERULOSCLEROSIS 1 (OMIM:603278)
Association type: MENDELIAN
Gene: ACTN4
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: LHX3
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 3 (OMIM:221750)
Association type: MENDELIAN
Gene: LHX3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LHX3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LHX3
Disease: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome; Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome (ORPHA:231720)
Association type: UNKNOWN
Gene: LHX3
Disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Association type: UNKNOWN
Gene: TRAPPC6B
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, EPILEPSY, AND BRAIN ATROPHY (OMIM:617862)
Association type: MENDELIAN
Gene: PI4KA
Disease: POLYMICROGYRIA, PERISYLVIAN, WITH CEREBELLAR HYPOPLASIA AND ARTHROGRYPOSIS (OMIM:616531)
Association type: MENDELIAN
Gene: PI4KA
Disease: SPASTIC PARAPLEGIA 84, AUTOSOMAL RECESSIVE (OMIM:619621)
Association type: MENDELIAN
Gene: PI4KA
Disease: GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2 (OMIM:619708)
Association type: MENDELIAN
Gene: PI4KA
Disease: Bilateral perisylvian polymicrogyria (ORPHA:98889)
Association type: UNKNOWN
Gene: PI4KA
Disease: Autosomal recessive spastic paraplegia type 84 (ORPHA:631079)
Association type: UNKNOWN
Gene: PI4KA
Disease: Combined immunodeficiency-enteropathy spectrum; CID-MIA/early-onset IBD (ORPHA:436252)
Association type: UNKNOWN
Gene: IFT43
Disease: SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY (OMIM:617866)
Association type: MENDELIAN
Gene: IFT43
Disease: RETINITIS PIGMENTOSA 81 (OMIM:617871)
Association type: MENDELIAN
Gene: IFT43
Disease: CRANIOECTODERMAL DYSPLASIA 3 (OMIM:614099)
Association type: MENDELIAN
Gene: IFT43
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IFT43
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT43
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IFT43
Disease: Cranioectodermal dysplasia; CED; Sensenbrenner syndrome (ORPHA:1515)
Association type: UNKNOWN
Gene: IFT43
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: HABP2
Disease: THYROID CANCER, NONMEDULLARY, 5 (OMIM:616535)
Association type: POLYGENIC
Gene: HABP2
Disease: THROMBOPHILIA DUE TO THROMBIN DEFECT (OMIM:188050)
Association type: POLYGENIC
Gene: HABP2
Disease: Familial papillary or follicular thyroid carcinoma; FNMTC; Familial pure nonmedullary thyroid carcinoma (ORPHA:319487)
Association type: UNKNOWN
Gene: ZSWIM6
Disease: NEURODEVELOPMENTAL DISORDER WITH MOVEMENT ABNORMALITIES, ABNORMAL GAIT, AND AUTISTIC FEATURES (OMIM:617865)
Association type: MENDELIAN
Gene: ZSWIM6
Disease: ACROMELIC FRONTONASAL DYSOSTOSIS (OMIM:603671)
Association type: MENDELIAN
Gene: ZSWIM6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ZSWIM6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ZSWIM6
Disease: Acromelic frontonasal dysplasia; AFND; Acromelic frontonasal dysostosis; Toriello syndrome (ORPHA:1827)
Association type: UNKNOWN
Gene: FOXE1
Disease: THYROID CANCER, NONMEDULLARY, 4 (OMIM:616534)
Association type: POLYGENIC
Gene: FOXE1
Disease: HYPOTHYROIDISM, THYROIDAL OR ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE (OMIM:241850)
Association type: MENDELIAN
Gene: FOXE1
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: FOXE1
Disease: Bamforth-Lazarus syndrome; Athyroidal hypothyroidism-spiky hair-cleft palate syndrome; Bamforth syndrome; Hypothyroidism-cleft palate syndrome (ORPHA:1226)
Association type: UNKNOWN
Gene: FOXE1
Disease: Athyreosis (ORPHA:95713)
Association type: UNKNOWN
Gene: FOXE1
Disease: Familial papillary or follicular thyroid carcinoma; FNMTC; Familial pure nonmedullary thyroid carcinoma (ORPHA:319487)
Association type: UNKNOWN
Gene: GRIA4
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT SEIZURES AND GAIT ABNORMALITIES (OMIM:617864)
Association type: MENDELIAN
Gene: GRIA4
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: LMAN2L
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 69 (OMIM:617863)
Association type: MENDELIAN
Gene: LMAN2L
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 52 (OMIM:616887)
Association type: MENDELIAN
Gene: LMAN2L
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: IRF3
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 7 (OMIM:616532)
Association type: POLYGENIC
Gene: TRMT5
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 26 (OMIM:616539)
Association type: MENDELIAN
Gene: TRMT5
Disease: Combined oxidative phosphorylation defect type 26; COXPD26 (ORPHA:477684)
Association type: UNKNOWN
Gene: IL21R
Disease: IMMUNODEFICIENCY 56 (OMIM:615207)
Association type: MENDELIAN
Gene: IL21R
Disease: Combined immunodeficiency due to IL21R deficiency; CID due to IL21R deficiency; Combined immunodeficiency due to interleukin 21 receptor deficiency (ORPHA:357329)
Association type: UNKNOWN
Gene: DAG1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 (OMIM:616538)
Association type: MENDELIAN
Gene: DAG1
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 9 (OMIM:613818)
Association type: MENDELIAN
Gene: DAG1
Disease: Muscle-eye-brain disease with bilateral multicystic leucodystrophy; MEB disease with bilateral multicystic leucodystrophy (ORPHA:370997)
Association type: UNKNOWN
Gene: DAG1
Disease: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16; Alpha-dystroglycan-related LGMD R16; Autosomal recessive limb-girdle muscular dystrophy type 2P; LGMD type 2P; LGMD2P; Limb-girdle muscular dystrophy type 2P (ORPHA:280333)
Association type: UNKNOWN
Gene: DAG1
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: DAG1
Disease: Isolated asymptomatic elevation of creatine phosphokinase; Idiopathic asymptomatic hyperCKemia; Isolated asymptomatic hyperCKemia (ORPHA:206599)
Association type: UNKNOWN
Gene: FERMT1
Disease: KINDLER SYNDROME (OMIM:173650)
Association type: MENDELIAN
Gene: FERMT1
Disease: Kindler epidermolysis bullosa; Congenital bullous poikiloderma; Kindler syndrome; Poikiloderma of Kindler (ORPHA:2908)
Association type: UNKNOWN
Gene: CARD11
Disease: IMMUNODEFICIENCY 11 (OMIM:615206)
Association type: MENDELIAN
Gene: CARD11
Disease: B-CELL EXPANSION WITH NFKB AND T-CELL ANERGY (OMIM:616452)
Association type: MENDELIAN
Gene: CARD11
Disease: IMMUNODEFICIENCY 11B WITH ATOPIC DERMATITIS (OMIM:617638)
Association type: MENDELIAN
Gene: CARD11
Disease: Combined immunodeficiency due to CARD11 deficiency; CID due to CARD11 deficiency; Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency (ORPHA:357237)
Association type: UNKNOWN
Gene: CARD11
Disease: Persistent polyclonal B-cell lymphocytosis; PPBL; Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes (ORPHA:300324)
Association type: UNKNOWN
Gene: CARD11
Disease: CADINS disease; CARD11-associated atopy with dominant interference of NF-kB signaling syndrome (ORPHA:619972)
Association type: UNKNOWN
Gene: CARD11
Disease: BENTA disease; B-cell expansion with NF-kB and T-cell anergy disease (ORPHA:464336)
Association type: UNKNOWN
Gene: TBX22
Disease: CLEFT PALATE WITH OR WITHOUT ANKYLOGLOSSIA, X-LINKED (OMIM:303400)
Association type: MENDELIAN
Gene: TBX22
Disease: ABRUZZO-ERICKSON SYNDROME (OMIM:302905)
Association type: MENDELIAN
Gene: TBX22
Disease: Abruzzo-Erickson syndrome; CHARGE-like syndrome; Cleft palate-coloboma-deafness syndrome; Cleft palate-coloboma-hearing loss syndrome (ORPHA:921)
Association type: UNKNOWN
Gene: TBX22
Disease: X-linked cleft palate and ankyloglossia (ORPHA:324601)
Association type: UNKNOWN
Gene: TRIT1
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 35 (OMIM:617873)
Association type: MENDELIAN
Gene: MRPS7
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 34 (OMIM:617872)
Association type: MENDELIAN
Gene: MRPS7
Disease: Syndromic sensorineural deafness due to combined oxidative phosphorylation defect; Syndromic sensorineural deafness due to COXPD; Syndromic sensorineural hearing loss due to COXPD (ORPHA:457223)
Association type: UNKNOWN
Gene: XRCC4
Disease: SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION (OMIM:616541)
Association type: MENDELIAN
Gene: XRCC4
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: XRCC4
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: XRCC4
Disease: LIG4 syndrome; DNA ligase IV deficiency; Ligase 4 syndrome (ORPHA:99812)
Association type: UNKNOWN
Gene: XRCC4
Disease: Microcephalic primordial dwarfism-insulin resistance syndrome (ORPHA:436182)
Association type: UNKNOWN
Gene: LMNB2
Disease: EPILEPSY, PROGRESSIVE MYOCLONIC, 9 (OMIM:616540)
Association type: MENDELIAN
Gene: LMNB2
Disease: MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT (OMIM:619180)
Association type: MENDELIAN
Gene: LMNB2
Disease: LIPODYSTROPHY, PARTIAL, ACQUIRED, SUSCEPTIBILITY TO (OMIM:608709)
Association type: POLYGENIC
Gene: LMNB2
Disease: Acquired partial lipodystrophy; Barraquer-Simons syndrome; Progressive cephalothoracic lipodystrophy (ORPHA:79087)
Association type: UNKNOWN
Gene: LMNB2
Disease: Progressive myoclonic epilepsy type 9; EPM9; PME type 9; Progressive myoclonic epilepsy due to LMNB2 deficiency; Progressive myoclonus epilepsy type 9 (ORPHA:457265)
Association type: UNKNOWN
Gene: KIAA0586
Disease: SHORT-RIB THORACIC DYSPLASIA 14 WITH POLYDACTYLY (OMIM:616546)
Association type: MENDELIAN
Gene: KIAA0586
Disease: JOUBERT SYNDROME 23 (OMIM:616490)
Association type: MENDELIAN
Gene: KIAA0586
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KIAA0586
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KIAA0586
Disease: Joubert syndrome with Jeune asphyxiating thoracic dystrophy; JBTS with JATD; Joubert syndrome with JATD (ORPHA:397715)
Association type: UNKNOWN
Gene: KIAA0586
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: PIK3R1
Disease: AGAMMAGLOBULINEMIA 7, AUTOSOMAL RECESSIVE (OMIM:615214)
Association type: MENDELIAN
Gene: PIK3R1
Disease: SHORT SYNDROME (OMIM:269880)
Association type: MENDELIAN
Gene: PIK3R1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PIK3R1
Disease: IMMUNODEFICIENCY 36 (OMIM:616005)
Association type: MENDELIAN
Gene: PIK3R1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PIK3R1
Disease: SHORT syndrome; Lipodystrophy-Rieger anomaly-diabetes syndrome; Rieger anomaly-partial lipodystrophy syndrome (ORPHA:3163)
Association type: UNKNOWN
Gene: PIK3R1
Disease:  (ORPHA:693681)
Association type: UNKNOWN
Gene: PIK3R1
Disease: Autosomal agammaglobulinemia; Agammaglobulinemia, non-Bruton type (ORPHA:33110)
Association type: UNKNOWN
Gene: AGL
Disease: GLYCOGEN STORAGE DISEASE III (OMIM:232400)
Association type: MENDELIAN
Gene: AGL
Disease: Glycogen storage disease due to glycogen debranching enzyme deficiency; Amylo-1,6-glucosidase deficiency; Cori disease; Cori-Forbes disease; Forbes disease; GDE deficiency; GSD due to glycogen debranching enzyme deficiency; GSD type 3; GSDIII; Glycogen storage disease type 3; Glycogen storage disease type III; Glycogenosis due to glycogen debranching enzyme deficiency; Glycogenosis type 3; Glycogenosis type III; Limit dextrinosis (ORPHA:366)
Association type: UNKNOWN
Gene: LRP5
Disease: POLYCYSTIC LIVER DISEASE 4 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617875)
Association type: MENDELIAN
Gene: LRP5
Disease: OSTEOPETROSIS, AUTOSOMAL DOMINANT 1 (OMIM:607634)
Association type: MENDELIAN
Gene: LRP5
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: LRP5
Disease: EXUDATIVE VITREORETINOPATHY 1 (OMIM:133780)
Association type: MENDELIAN
Gene: LRP5
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: LRP5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LRP5
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 1 (OMIM:601884)
Association type: MENDELIAN
Gene: LRP5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LRP5
Disease: EXUDATIVE VITREORETINOPATHY 4 (OMIM:601813)
Association type: MENDELIAN
Gene: LRP5
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: LRP5
Disease: ENDOSTEAL HYPEROSTOSIS, AUTOSOMAL DOMINANT (OMIM:144750)
Association type: MENDELIAN
Gene: LRP5
Disease: Endosteal hyperostosis, Worth type; Autosomal dominant osteosclerosis, Worth type; Worth syndrome (ORPHA:2790)
Association type: UNKNOWN
Gene: LRP5
Disease: Osteoporosis-pseudoglioma syndrome; OPPG; Ocular form of osteogenesis imperfecta (ORPHA:2788)
Association type: UNKNOWN
Gene: LRP5
Disease: Autosomal dominant osteopetrosis type 1 (ORPHA:2783)
Association type: UNKNOWN
Gene: LRP5
Disease: Osteosclerosis-developmental delay-craniosynostosis syndrome (ORPHA:178377)
Association type: UNKNOWN
Gene: LRP5
Disease: Familial exudative vitreoretinopathy; Criswick-Schepens syndrome; FEVR (ORPHA:891)
Association type: UNKNOWN
Gene: LRP5
Disease: Retinopathy of prematurity; ROP; Retrolental fibroplasia (ORPHA:90050)
Association type: UNKNOWN
Gene: LRP5
Disease: Isolated polycystic liver disease; ADPCLD; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Association type: UNKNOWN
Gene: LRP5
Disease: LRP5-related primary osteoporosis (ORPHA:498481)
Association type: UNKNOWN
Gene: LRP5
Disease: Hyperostosis corticalis generalisata; Hyperphosphatasemia tarda; Van Buchem disease (ORPHA:3416)
Association type: UNKNOWN
Gene: MYO18B
Disease: KLIPPEL-FEIL SYNDROME 4, AUTOSOMAL RECESSIVE, WITH NEMALINE MYOPATHY AND FACIAL DYSMORPHISM (OMIM:616549)
Association type: MENDELIAN
Gene: MYO18B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MYO18B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MYO18B
Disease: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome (ORPHA:447974)
Association type: UNKNOWN
Gene: MPDZ
Disease: HYDROCEPHALUS, CONGENITAL, 2, WITH OR WITHOUT BRAIN OR EYE ANOMALIES (OMIM:615219)
Association type: MENDELIAN
Gene: MPDZ
Disease: Congenital communicating hydrocephalus; Congenital non-obstructive hydrocephalus (ORPHA:269505)
Association type: UNKNOWN
Gene: TUBB4B
Disease: LEBER CONGENITAL AMAUROSIS WITH EARLY-ONSET DEAFNESS (OMIM:617879)
Association type: MENDELIAN
Gene: TUBB4B
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TUBB4B
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: PIK3R5
Disease: ATAXIA-OCULOMOTOR APRAXIA 3 (OMIM:615217)
Association type: MENDELIAN
Gene: PIK3R5
Disease: Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2; SCAN 2; SCAR1 (ORPHA:64753)
Association type: UNKNOWN
Gene: COL4A3
Disease: ALPORT SYNDROME 3, AUTOSOMAL DOMINANT (OMIM:104200)
Association type: MENDELIAN
Gene: COL4A3
Disease: ALPORT SYNDROME 1, X-LINKED (OMIM:301050)
Association type: MENDELIAN
Gene: COL4A3
Disease: ALPORT SYNDROME 3B, AUTOSOMAL RECESSIVE (OMIM:620536)
Association type: MENDELIAN
Gene: COL4A3
Disease: HEMATURIA, BENIGN FAMILIAL, 2 (OMIM:620320)
Association type: MENDELIAN
Gene: COL4A3
Disease: Hereditary steroid-resistant nephrotic syndrome; Familial idiopathic steroid-resistant nephrotic syndrome; Genetic FSGS; Genetic SRNS; Hereditary SRNS; Isolated SRNS; Monogenic SRNS (ORPHA:656)
Association type: UNKNOWN
Gene: COL4A3
Disease: Digenic Alport syndrome (ORPHA:653722)
Association type: UNKNOWN
Gene: COL4A3
Disease: Autosomal recessive Alport syndrome (ORPHA:88919)
Association type: UNKNOWN
Gene: COL4A3
Disease: Autosomal dominant Alport syndrome (ORPHA:88918)
Association type: UNKNOWN
Gene: ACD
Disease: DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6 (OMIM:616553)
Association type: MENDELIAN
Gene: ACD
Disease: Hoyeraal-Hreidarsson syndrome; Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome (ORPHA:3322)
Association type: UNKNOWN
Gene: ACD
Disease: Hereditary isolated aplastic anemia (ORPHA:397692)
Association type: UNKNOWN
Gene: ACD
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: WNT1
Disease: BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 16 (OMIM:615221)
Association type: POLYGENIC
Gene: WNT1
Disease: OSTEOGENESIS IMPERFECTA, TYPE XV (OMIM:615220)
Association type: MENDELIAN
Gene: WNT1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: WNT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WNT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: WNT1
Disease: Osteogenesis imperfecta type 3; OI type 3; Progressive deforming osteogenesis imperfecta; Severe osteogenesis imperfecta (ORPHA:216812)
Association type: UNKNOWN
Gene: WNT1
Disease: Osteogenesis imperfecta type 4; OI type 4 (ORPHA:216820)
Association type: UNKNOWN
Gene: WNT1
Disease: Idiopathic juvenile osteoporosis; IJO; Juvenile osteoporosis (ORPHA:85193)
Association type: UNKNOWN
Gene: BRCA1
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP S (OMIM:617883)
Association type: MENDELIAN
Gene: BRCA1
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1 (OMIM:604370)
Association type: POLYGENIC
Gene: BRCA1
Disease: PANCREATIC CANCER, SUSCEPTIBILITY TO, 4 (OMIM:614320)
Association type: POLYGENIC
Gene: BRCA1
Disease: BREAST CANCER (OMIM:114480)
Association type: MENDELIAN
Gene: BRCA1
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: BRCA1
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: BRCA1
Disease: Primary peritoneal carcinoma; EOPPC; Extra-ovarian primary peritoneal carcinoma; PPC; Primary peritoneal serous carcinoma; Serous surface papillary carcinoma (ORPHA:168829)
Association type: UNKNOWN
Gene: BRCA1
Disease:  (ORPHA:694963)
Association type: UNKNOWN
Gene: BRCA1
Disease: Hereditary breast cancer; Familial breast cancer; Familial breast carcinoma; Hereditary breast carcinoma (ORPHA:227535)
Association type: UNKNOWN
Gene: BRCA1
Disease: Familial pancreatic carcinoma; Familial pancreatic cancer (ORPHA:1333)
Association type: UNKNOWN
Gene: BRCA1
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: BRCA1
Disease: Cholangiocarcinoma; Bile duct cancer; CCA (ORPHA:70567)
Association type: UNKNOWN
Gene: RAB33B
Disease: SMITH-MCCORT DYSPLASIA 2 (OMIM:615222)
Association type: MENDELIAN
Gene: RAB33B
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RAB33B
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RAB33B
Disease: Smith-McCort dysplasia (ORPHA:178355)
Association type: UNKNOWN
Gene: TYROBP
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Association type: MENDELIAN
Gene: TYROBP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TYROBP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TYROBP
Disease: Nasu-Hakola disease; NHD; PLO-SL; PLOSL; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (ORPHA:2770)
Association type: UNKNOWN
Gene: TREM2
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Association type: MENDELIAN
Gene: TREM2
Disease: ALZHEIMER DISEASE 17 (OMIM:615080)
Association type: POLYGENIC
Gene: TREM2
Disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 (OMIM:618193)
Association type: MENDELIAN
Gene: TREM2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TREM2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TREM2
Disease: Nasu-Hakola disease; NHD; PLO-SL; PLOSL; Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (ORPHA:2770)
Association type: UNKNOWN
Gene: TREM2
Disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Association type: UNKNOWN
Gene: TREM2
Disease: Early-onset autosomal dominant Alzheimer disease; EOFAD; Early-onset familial autosomal dominant Alzheimer disease; Familial Alzheimer disease (ORPHA:1020)
Association type: UNKNOWN
Gene: TREM2
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: TREM2
Disease: Progressive non-fluent aphasia; Agramatic variant of PPA; Agramatic variant of primary progressive aphasia; Non-fluent variant PPA (ORPHA:100070)
Association type: UNKNOWN
Gene: TREM2
Disease: Semantic dementia; Semantic primary progressive aphasia; Semantic variant PPA (ORPHA:100069)
Association type: UNKNOWN
Gene: NEFL
Disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Association type: MENDELIAN
Gene: NEFL
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Association type: MENDELIAN
Gene: NEFL
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Association type: MENDELIAN
Gene: NEFL
Disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Association type: UNKNOWN
Gene: NEFL
Disease: Charcot-Marie-Tooth disease type 2B5; AR-CMT2B5; Autosomal recessive Charcot-Marie-Tooth disease type 2B5; SEOAN due to NEFL deficiency; Severe early-onset axonal neuropathy due to NEFL deficiency; Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency (ORPHA:228374)
Association type: UNKNOWN
Gene: NEFL
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2E; CMT2E (ORPHA:99939)
Association type: UNKNOWN
Gene: NLRP1
Disease: PALMOPLANTAR CARCINOMA, MULTIPLE SELF-HEALING (OMIM:615225)
Association type: MENDELIAN
Gene: NLRP1
Disease: RESPIRATORY PAPILLOMATOSIS, JUVENILE RECURRENT, CONGENITAL (OMIM:618803)
Association type: MENDELIAN
Gene: NLRP1
Disease: AUTOINFLAMMATION WITH ARTHRITIS AND DYSKERATOSIS (OMIM:617388)
Association type: MENDELIAN
Gene: NLRP1
Disease: VITILIGO-ASSOCIATED MULTIPLE AUTOIMMUNE DISEASE SUSCEPTIBILITY 1 (OMIM:606579)
Association type: POLYGENIC
Gene: NLRP1
Disease: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome (ORPHA:352662)
Association type: UNKNOWN
Gene: ZNF141
Disease: POLYDACTYLY, POSTAXIAL, TYPE A6 (OMIM:615226)
Association type: MENDELIAN