TaoMedAI/RareMedData huggingface dataset:
Gene: CARD9
Disease: CANDIDIASIS, FAMILIAL, 2 (OMIM:212050)
Association type: MENDELIAN
Gene: CARD9
Disease: Predisposition to invasive fungal disease due to CARD9 deficiency; Invasive candidiasis-deep dermatophytosis syndrome (ORPHA:457088)
Association type: UNKNOWN
Gene: TBC1D7
Disease: MACROCEPHALY/MEGALENCEPHALY SYNDROME, AUTOSOMAL RECESSIVE (OMIM:248000)
Association type: MENDELIAN
Gene: TBC1D7
Disease: Megalencephaly; Macroencephaly (ORPHA:2477)
Association type: UNKNOWN
Gene: IFT81
Disease: SHORT-RIB THORACIC DYSPLASIA 19 WITH OR WITHOUT POLYDACTYLY (OMIM:617895)
Association type: MENDELIAN
Gene: IFT81
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: IFT81
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IFT81
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LZTR1
Disease: NOONAN SYNDROME 10 (OMIM:616564)
Association type: MENDELIAN
Gene: LZTR1
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: LZTR1
Disease: SCHWANNOMATOSIS 2 (OMIM:615670)
Association type: POLYGENIC
Gene: LZTR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LZTR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LZTR1
Disease: NOONAN SYNDROME 2 (OMIM:605275)
Association type: MENDELIAN
Gene: LZTR1
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: LZTR1
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: LZTR1
Disease: Full schwannomatosis; Full NF3; Full SWN; Full neurofibromatosis type 3; Neurilemmomatosis; Nonmosaic schwannomatosis (ORPHA:93921)
Association type: UNKNOWN
Gene: LZTR1
Disease: Familial isolated café-au-lait macules; CALs syndrome isolated; Familial CALMs isolated; Familial isolated CALSs; Familial isolated café-au-lait spots; Multiple isolated café-au-lait spots; Multiple isolated café-au-lait syndrome (ORPHA:2678)
Association type: UNKNOWN
Gene: LZTR1
Disease: Noonan syndrome (ORPHA:648)
Association type: UNKNOWN
Gene: SLC1A1
Disease: SCHIZOPHRENIA 18 (OMIM:615232)
Association type: POLYGENIC
Gene: SLC1A1
Disease: DICARBOXYLIC AMINOACIDURIA (OMIM:222730)
Association type: MENDELIAN
Gene: SLC1A1
Disease: Hot water reflex epilepsy (ORPHA:166412)
Association type: UNKNOWN
Gene: SLC1A1
Disease: Dicarboxylic aminoaciduria; Glutamate-aspartate transport defect (ORPHA:2195)
Association type: UNKNOWN
Gene: RBP3
Disease: RETINITIS PIGMENTOSA 66 (OMIM:615233)
Association type: MENDELIAN
Gene: RBP3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: RBP3
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: RBP3
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: BBS2
Disease: RETINITIS PIGMENTOSA 74 (OMIM:616562)
Association type: MENDELIAN
Gene: BBS2
Disease: BARDET-BIEDL SYNDROME 2 (OMIM:615981)
Association type: MENDELIAN
Gene: BBS2
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: BBS2
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: BBS2
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: NEK1
Disease: AMYOTROPHIC LATERAL SCLEROSIS, SUSCEPTIBILITY TO, 24 (OMIM:617892)
Association type: POLYGENIC
Gene: NEK1
Disease: SHORT-RIB THORACIC DYSPLASIA 6 WITH OR WITHOUT POLYDACTYLY (OMIM:263520)
Association type: MENDELIAN
Gene: NEK1
Disease: MOHR SYNDROME (OMIM:252100)
Association type: MENDELIAN
Gene: NEK1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NEK1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NEK1
Disease: Orofaciodigital syndrome type 2; Mohr syndrome; OFD2; Oral-facial-digital syndrome type 2 (ORPHA:2751)
Association type: UNKNOWN
Gene: NEK1
Disease: Short rib-polydactyly syndrome, Majewski type; Short rib-polydactyly syndrome type 2 (ORPHA:93269)
Association type: UNKNOWN
Gene: NEK1
Disease: Amyotrophic lateral sclerosis; ALS; Charcot disease; Lou Gehrig disease (ORPHA:803)
Association type: UNKNOWN
Gene: UFM1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 14 (OMIM:617899)
Association type: MENDELIAN
Gene: UFM1
Disease: Hypomyelination with atrophy of basal ganglia and cerebellum; H-ABC (ORPHA:139441)
Association type: UNKNOWN
Gene: GDF6
Disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Association type: MENDELIAN
Gene: GDF6
Disease: MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
Association type: MENDELIAN
Gene: GDF6
Disease: LEBER CONGENITAL AMAUROSIS 17 (OMIM:615360)
Association type: MENDELIAN
Gene: GDF6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: GDF6
Disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Association type: MENDELIAN
Gene: GDF6
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GDF6
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GDF6
Disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Association type: MENDELIAN
Gene: GDF6
Disease: Multiple synostoses syndrome; Deafness-Hermann type symphalangism syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome; Symphalangism-brachydactyly syndrome; WL syndrome (ORPHA:3237)
Association type: UNKNOWN
Gene: GDF6
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: GDF6
Disease: Colobomatous microphthalmia; MAC; Microphthalmia with colobomatous cyst; Microphthalmia-anophthalmia-coloboma syndrome (ORPHA:98938)
Association type: UNKNOWN
Gene: GDF6
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: CLMP
Disease: CONGENITAL SHORT BOWEL SYNDROME (OMIM:615237)
Association type: MENDELIAN
Gene: CLMP
Disease: Congenital short bowel syndrome (ORPHA:2301)
Association type: UNKNOWN
Gene: RIPPLY2
Disease: SPONDYLOCOSTAL DYSOSTOSIS 6, AUTOSOMAL RECESSIVE (OMIM:616566)
Association type: MENDELIAN
Gene: RIPPLY2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RIPPLY2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RIPPLY2
Disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Association type: UNKNOWN
Gene: STEAP3
Disease: ANEMIA, HYPOCHROMIC MICROCYTIC, WITH IRON OVERLOAD 2 (OMIM:615234)
Association type: MENDELIAN
Gene: STEAP3
Disease: Severe congenital hypochromic anemia with ringed sideroblasts; Severe congenital hypochromic sideroblastic anemia (ORPHA:300298)
Association type: UNKNOWN
Gene: LAMA4
Disease: CARDIOMYOPATHY, DILATED, 1JJ (OMIM:615235)
Association type: MENDELIAN
Gene: LAMA4
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: CIDEC
Disease: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 5 (OMIM:615238)
Association type: MENDELIAN
Gene: CIDEC
Disease: CIDEC-related familial partial lipodystrophy; CIDEC-related FPLD; FPLD5 (ORPHA:435651)
Association type: UNKNOWN
Gene: TAP1
Disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Association type: MENDELIAN
Gene: TAP1
Disease: Immunodeficiency by defective expression of MHC class I; Bare lymphocyte syndrome type 1; MHC class I deficiency (ORPHA:34592)
Association type: UNKNOWN
Gene: THRB
Disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL RECESSIVE (OMIM:274300)
Association type: MENDELIAN
Gene: THRB
Disease: THYROID HORMONE RESISTANCE, GENERALIZED, AUTOSOMAL DOMINANT (OMIM:188570)
Association type: MENDELIAN
Gene: THRB
Disease: THYROID HORMONE RESISTANCE, SELECTIVE PITUITARY (OMIM:145650)
Association type: MENDELIAN
Gene: THRB
Disease: Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta; RTHb; Resistance to thyroid hormone beta; Resistance to thyroid hormone due to a mutation in TRb (ORPHA:566243)
Association type: UNKNOWN
Gene: ABHD5
Disease: CHANARIN-DORFMAN SYNDROME (OMIM:275630)
Association type: MENDELIAN
Gene: ABHD5
Disease: Neutral lipid storage disease with ichthyosis; CDS; Chanarin-Dorfman syndrome; DCS; Dorfman-Chanarin syndrome; NLSDI (ORPHA:98907)
Association type: UNKNOWN
Gene: GLDC
Disease: GLYCINE ENCEPHALOPATHY (OMIM:605899)
Association type: MENDELIAN
Gene: GLDC
Disease: Neonatal glycine encephalopathy; Classic glycine encephalopathy; Neonatal NKH; Neonatal non-ketotic hyperglycinemia (ORPHA:289857)
Association type: UNKNOWN
Gene: GLDC
Disease: Atypical glycine encephalopathy; Atypical NKA; Atypical non-ketotic hyperglycinemia (ORPHA:289863)
Association type: UNKNOWN
Gene: GLDC
Disease: Infantile glycine encephalopathy; Infantile NKH; Infantile non-ketotic hyperglycinemia (ORPHA:289860)
Association type: UNKNOWN
Gene: GNAS-AS1
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Association type: MENDELIAN
Gene: GNAS
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Association type: MENDELIAN
Gene: GNAS
Disease: MCCUNE-ALBRIGHT SYNDROME (OMIM:174800)
Association type: MENDELIAN
Gene: GNAS
Disease: OSSEOUS HETEROPLASIA, PROGRESSIVE (OMIM:166350)
Association type: MENDELIAN
Gene: GNAS
Disease: PITUITARY ADENOMA 3, MULTIPLE TYPES (OMIM:617686)
Association type: MENDELIAN
Gene: GNAS
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IA (OMIM:103580)
Association type: MENDELIAN
Gene: GNAS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GNAS
Disease: ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA (OMIM:219080)
Association type: MENDELIAN
Gene: GNAS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GNAS
Disease: PSEUDOPSEUDOHYPOPARATHYROIDISM (OMIM:612463)
Association type: MENDELIAN
Gene: GNAS
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IC (OMIM:612462)
Association type: MENDELIAN
Gene: GNAS
Disease: Pseudohypoparathyroidism type 1A; AHO-PHP syndrome Ia; Albright hereditary osteodystrophy-PHP syndrome Ia (ORPHA:79443)
Association type: UNKNOWN
Gene: GNAS
Disease: Pseudohypoparathyroidism type 1C (ORPHA:79444)
Association type: UNKNOWN
Gene: GNAS
Disease: Pseudopseudohypoparathyroidism; AHO-PPHP syndrome; Albright hereditary osteodystrophy-PPHP syndrome (ORPHA:79445)
Association type: UNKNOWN
Gene: GNAS
Disease: Progressive osseous heteroplasia; Familial ectopic ossification; POH (ORPHA:2762)
Association type: UNKNOWN
Gene: GNAS
Disease: Polyostotic fibrous dysplasia (ORPHA:93276)
Association type: UNKNOWN
Gene: GNAS
Disease: Monostotic fibrous dysplasia; Jaffe-Lichtenstein disease (ORPHA:93277)
Association type: UNKNOWN
Gene: GNAS
Disease: Cushing syndrome due to bilateral macronodular adrenocortical disease; CS due to BMACD; CS due to BMAD; Cushing syndrome due to BMACD; Cushing syndrome due to BMAD; Cushing syndrome due to macronodular adrenal hyperplasia; Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia (ORPHA:189427)
Association type: UNKNOWN
Gene: GNAS
Disease: Mazabraud syndrome; Myxoma with fibrous dysplasia (ORPHA:57782)
Association type: UNKNOWN
Gene: GNAS
Disease: McCune-Albright syndrome (ORPHA:562)
Association type: UNKNOWN
Gene: GNAS
Disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Association type: UNKNOWN
Gene: STX16
Disease: PSEUDOHYPOPARATHYROIDISM, TYPE IB (OMIM:603233)
Association type: MENDELIAN
Gene: STX16
Disease: Pseudohypoparathyroidism type 1B (ORPHA:94089)
Association type: UNKNOWN
Gene: CNGB3
Disease: ACHROMATOPSIA 3 (OMIM:262300)
Association type: MENDELIAN
Gene: CNGB3
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CNGB3
Disease: Progressive cone dystrophy; Cone dystrophy (ORPHA:1871)
Association type: UNKNOWN
Gene: CNGB3
Disease: Stargardt disease; Fundus flavimaculatus; Stargardt 1 (ORPHA:827)
Association type: UNKNOWN
Gene: CNGB3
Disease: Achromatopsia; ACHM; Complete or incomplete color blindness; Pingelapese blindness; Rod monochromacy; Rod monochromatism; Total color blindness (ORPHA:49382)
Association type: UNKNOWN
Gene: ERCC5
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 3 (OMIM:616570)
Association type: MENDELIAN
Gene: ERCC5
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G (OMIM:278780)
Association type: MENDELIAN
Gene: ERCC5
Disease: COFS syndrome; Cerebrooculofacioskeletal syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Association type: UNKNOWN
Gene: ERCC5
Disease: Xeroderma pigmentosum-Cockayne syndrome complex; XP/CS complex (ORPHA:220295)
Association type: UNKNOWN
Gene: ERCC5
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: ARHGDIA
Disease: NEPHROTIC SYNDROME, TYPE 8 (OMIM:615244)
Association type: MENDELIAN
Gene: ARHGDIA
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: FLCN
Disease: PNEUMOTHORAX, PRIMARY SPONTANEOUS (OMIM:173600)
Association type: MENDELIAN
Gene: FLCN
Disease: POTOCKI-LUPSKI SYNDROME (OMIM:610883)
Association type: MENDELIAN
Gene: FLCN
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: FLCN
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: MENDELIAN
Gene: FLCN
Disease: BIRT-HOGG-DUBE SYNDROME (OMIM:135150)
Association type: MENDELIAN
Gene: FLCN
Disease: Birt-Hogg-Dubé syndrome; Hornstein-Knickenberg syndrome (ORPHA:122)
Association type: UNKNOWN
Gene: FLCN
Disease: Familial spontaneous pneumothorax (ORPHA:2903)
Association type: UNKNOWN
Gene: FLCN
Disease: Hereditary clear cell renal cell carcinoma; Hereditary clear cell renal cell adenocarcinoma (ORPHA:422526)
Association type: UNKNOWN
Gene: CHAMP1
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 40 (OMIM:616579)
Association type: MENDELIAN
Gene: CHAMP1
Disease:  (ORPHA:692193)
Association type: UNKNOWN
Gene: MYPN
Disease: CARDIOMYOPATHY, DILATED, 1KK (OMIM:615248)
Association type: MENDELIAN
Gene: MYPN
Disease: NEMALINE MYOPATHY 11, AUTOSOMAL RECESSIVE (OMIM:617336)
Association type: MENDELIAN
Gene: MYPN
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: MYPN
Disease: Familial isolated restrictive cardiomyopathy; Familial or idiopathic restrictive cardiomyopathy (ORPHA:75249)
Association type: UNKNOWN
Gene: MYPN
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: MYPN
Disease: Cap myopathy; Cap disease (ORPHA:171881)
Association type: UNKNOWN
Gene: AFG2A
Disease: EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME (OMIM:616577)
Association type: MENDELIAN
Gene: AFG2A
Disease: Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome; Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome (ORPHA:457351)
Association type: UNKNOWN
Gene: NFKB1
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 12 (OMIM:616576)
Association type: MENDELIAN
Gene: NFKB1
Disease:  (ORPHA:696874)
Association type: UNKNOWN
Gene: POMK
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12 (OMIM:615249)
Association type: MENDELIAN
Gene: POMK
Disease: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12 (OMIM:616094)
Association type: MENDELIAN
Gene: POMK
Disease: Congenital muscular dystrophy with cerebellar involvement; CMD with cerebellar involvement; CMD-CRB (ORPHA:370959)
Association type: UNKNOWN
Gene: POMK
Disease: Walker-Warburg syndrome; HARD syndrome; Hydrocephalus-agyria-retinal dysplasia syndrome; WWS (ORPHA:899)
Association type: UNKNOWN
Gene: POMK
Disease: Limb-girdle muscular dystrophy due to POMK deficiency; LGMD due to POMK deficiency (ORPHA:445110)
Association type: UNKNOWN
Gene: SBF2
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2 (OMIM:604563)
Association type: MENDELIAN
Gene: SBF2
Disease: Charcot-Marie-Tooth disease type 4B2; CMT4B2 (ORPHA:99956)
Association type: UNKNOWN
Gene: TRPM4
Disease: PROGRESSIVE FAMILIAL HEART BLOCK, TYPE IB (OMIM:604559)
Association type: MENDELIAN
Gene: TRPM4
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: TRPM4
Disease: ERYTHROKERATODERMIA VARIABILIS ET PROGRESSIVA 6 (OMIM:618531)
Association type: MENDELIAN
Gene: TRPM4
Disease: Progressive symmetric erythrokeratodermia; Darier-Gottron disease; Erythrokeratodermia progressiva symmetrica; Progressive symmetric erythrokeratodermia, Gottron type (ORPHA:316)
Association type: UNKNOWN
Gene: TRPM4
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: TRPM4
Disease: Familial progressive cardiac conduction defect; Familial Lenègre disease; Familial Lev disease; Familial Lev-Lenègre disease; Familial PCCD; Familial progressive heart block; Hereditary bundle branch defect (ORPHA:871)
Association type: UNKNOWN
Gene: CPN1
Disease: CARBOXYPEPTIDASE N DEFICIENCY (OMIM:212070)
Association type: MENDELIAN
Gene: HNRNPK
Disease: AU-KLINE SYNDROME (OMIM:616580)
Association type: MENDELIAN
Gene: HNRNPK
Disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion; 9q21.3 microdeletion syndrome; Del(9)(q21.3) (ORPHA:352665)
Association type: UNKNOWN
Gene: HNRNPK
Disease: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation (ORPHA:453504)
Association type: UNKNOWN
Gene: ALDH18A1
Disease: SPASTIC PARAPLEGIA 9B, AUTOSOMAL RECESSIVE (OMIM:616586)
Association type: MENDELIAN
Gene: ALDH18A1
Disease: CUTIS LAXA, AUTOSOMAL DOMINANT 3 (OMIM:616603)
Association type: MENDELIAN
Gene: ALDH18A1
Disease: SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT (OMIM:601162)
Association type: MENDELIAN
Gene: ALDH18A1
Disease: CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA (OMIM:219150)
Association type: MENDELIAN
Gene: ALDH18A1
Disease: Autosomal dominant cutis laxa; ADCL (ORPHA:90348)
Association type: UNKNOWN
Gene: ALDH18A1
Disease: ALDH18A1-related De Barsy syndrome; Delta-1-pyrroline 5-carboxylate synthetase deficiency; Neurocutaneous syndrome, Bicknell type; P5CS deficiency (ORPHA:35664)
Association type: UNKNOWN
Gene: ALDH18A1
Disease: Autosomal dominant spastic paraplegia type 9B; AD-SPG9B (ORPHA:447757)
Association type: UNKNOWN
Gene: ALDH18A1
Disease: Autosomal dominant spastic paraplegia type 9A; AD-SPG9A; Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome; Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome (ORPHA:447753)
Association type: UNKNOWN
Gene: ALDH18A1
Disease: Autosomal recessive spastic paraplegia type 9B; AR-SPG9B (ORPHA:447760)
Association type: UNKNOWN
Gene: PMS2
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: PMS2
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 4 (OMIM:614337)
Association type: MENDELIAN
Gene: PMS2
Disease: MISMATCH REPAIR CANCER SYNDROME 4 (OMIM:619101)
Association type: MENDELIAN
Gene: PMS2
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: PMS2
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: PMS2
Disease: Constitutional mismatch repair deficiency syndrome; CMMR-D syndrome (ORPHA:252202)
Association type: UNKNOWN
Gene: MLH1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MLH1
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 2 (OMIM:609310)
Association type: MENDELIAN
Gene: MLH1
Disease: MUIR-TORRE SYNDROME (OMIM:158320)
Association type: MENDELIAN
Gene: MLH1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MLH1
Disease: MISMATCH REPAIR CANCER SYNDROME 1 (OMIM:276300)
Association type: MENDELIAN
Gene: MLH1
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: MLH1
Disease: Constitutional mismatch repair deficiency syndrome; CMMR-D syndrome (ORPHA:252202)
Association type: UNKNOWN
Gene: MSH6
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MSH6
Disease: ENDOMETRIAL CANCER (OMIM:608089)
Association type: POLYGENIC
Gene: MSH6
Disease: COLORECTAL CANCER, HEREDITARY NONPOLYPOSIS, TYPE 5 (OMIM:614350)
Association type: MENDELIAN
Gene: MSH6
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MSH6
Disease: MISMATCH REPAIR CANCER SYNDROME 3 (OMIM:619097)
Association type: MENDELIAN
Gene: MSH6
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: MSH6
Disease: Constitutional mismatch repair deficiency syndrome; CMMR-D syndrome (ORPHA:252202)
Association type: UNKNOWN
Gene: MSH3
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MSH3
Disease: ENDOMETRIAL CANCER (OMIM:608089)
Association type: MENDELIAN
Gene: MSH3
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MSH3
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 4 (OMIM:617100)
Association type: MENDELIAN
Gene: MSH3
Disease: MSH3-related attenuated familial adenomatous polyposis; MSH3-related AFAP; MSH3-related attenuated FAP; MSH3-related attenuated familial polyposis coli (ORPHA:480536)
Association type: UNKNOWN
Gene: NTHL1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: NTHL1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 3 (OMIM:616415)
Association type: MENDELIAN
Gene: NTHL1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: NTHL1
Disease: NTHL1-related attenuated familial adenomatous polyposis; NTHL1-related AFAP; NTHL1-related attenuated FAP (ORPHA:454840)
Association type: UNKNOWN
Gene: MCM9
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: MCM9
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: MCM9
Disease: OVARIAN DYSGENESIS 4 (OMIM:616185)
Association type: MENDELIAN
Gene: MCM9
Disease: 46,XX ovarian dysgenesis-short stature syndrome (ORPHA:444048)
Association type: UNKNOWN
Gene: POLD1
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: POLD1
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: POLD1
Disease: MANDIBULAR HYPOPLASIA, DEAFNESS, PROGEROID FEATURES, AND LIPODYSTROPHY SYNDROME (OMIM:615381)
Association type: MENDELIAN
Gene: POLD1
Disease: COLORECTAL CANCER, SUSCEPTIBILITY TO, 10 (OMIM:612591)
Association type: POLYGENIC
Gene: POLD1
Disease: IMMUNODEFICIENCY 120 (OMIM:620836)
Association type: MENDELIAN
Gene: POLD1
Disease: Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome; MDP syndrome; MDPL syndrome; Mandibular hypoplasia-hearing loss-progeroid syndrome (ORPHA:363649)
Association type: UNKNOWN
Gene: POLD1
Disease: Familial colorectal cancer Type X; FCCTX (ORPHA:440437)
Association type: UNKNOWN
Gene: POLD1
Disease: Polymerase proofreading-related adenomatous polyposis; PPAP (ORPHA:447877)
Association type: UNKNOWN
Gene: TSC2
Disease: JUVENILE POLYPOSIS SYNDROME (OMIM:174900)
Association type: MENDELIAN
Gene: TSC2
Disease: LYMPHEDEMA-DISTICHIASIS SYNDROME (OMIM:153400)
Association type: MENDELIAN
Gene: TSC2
Disease: FAMILIAL ADENOMATOUS POLYPOSIS 2 (OMIM:608456)
Association type: MENDELIAN
Gene: TSC2
Disease: TUBEROUS SCLEROSIS 2 (OMIM:613254)
Association type: MENDELIAN
Gene: TSC2
Disease: FOCAL CORTICAL DYSPLASIA, TYPE II (OMIM:607341)
Association type: MENDELIAN
Gene: TSC2
Disease: LYMPHANGIOLEIOMYOMATOSIS (OMIM:606690)
Association type: MENDELIAN
Gene: TSC2
Disease: Adult hepatocellular carcinoma; Adult HCC (ORPHA:210159)
Association type: UNKNOWN
Gene: TSC2
Disease: Isolated focal cortical dysplasia type IIa; FCD type IIa (ORPHA:269001)
Association type: UNKNOWN
Gene: TSC2
Disease: Isolated focal cortical dysplasia type IIb; FCD type IIb (ORPHA:269008)
Association type: UNKNOWN
Gene: TSC2
Disease: Tuberous sclerosis complex; Bourneville syndrome; Tuberous sclerosis (ORPHA:805)
Association type: UNKNOWN
Gene: TSC2
Disease: Lymphangioleiomyomatosis; LAM (ORPHA:538)
Association type: UNKNOWN