TaoMedAI/RareMedData huggingface dataset:
Gene: SELENBP1
Disease: EXTRAORAL HALITOSIS DUE TO METHANETHIOL OXIDASE DEFICIENCY (OMIM:618148)
Association type: MENDELIAN
Gene: SELENBP1
Disease: Autosomal recessive extra-oral halitosis; MTO-deficiency; Methanethiol oxidase deficiency (ORPHA:562538)
Association type: UNKNOWN
Gene: CUX2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 67 (OMIM:618141)
Association type: MENDELIAN
Gene: CUX2
Disease: Lennox-Gastaut syndrome (ORPHA:2382)
Association type: UNKNOWN
Gene: CTU2
Disease: MICROCEPHALY, FACIAL DYSMORPHISM, RENAL AGENESIS, AND AMBIGUOUS GENITALIA SYNDROME (OMIM:618142)
Association type: MENDELIAN
Gene: PIGS
Disease: GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18 (OMIM:618143)
Association type: MENDELIAN
Gene: SPTBN1
Disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Association type: MENDELIAN
Gene: SPTBN1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: NEUROG1
Disease: CRANIAL DYSINNERVATION DISORDER, CONGENITAL, WITH ABSENT CORNEAL REFLEX AND DEVELOPMENTAL DELAY (OMIM:620469)
Association type: MENDELIAN
Gene: HPS1
Disease: HERMANSKY-PUDLAK SYNDROME 1 (OMIM:203300)
Association type: MENDELIAN
Gene: HPS1
Disease: Hermansky-Pudlak syndrome due to BLOC-3 deficiency; HPS with pulmonary fibrosis; Hermansky-Pudlak syndrome with pulmonary fibrosis (ORPHA:231500)
Association type: UNKNOWN
Gene: ATP6V0C
Disease: EPILEPSY, EARLY-ONSET, 3, WITH OR WITHOUT DEVELOPMENTAL DELAY (OMIM:620465)
Association type: MENDELIAN
Gene: PMS1
Disease: LYNCH SYNDROME I (OMIM:120435)
Association type: MENDELIAN
Gene: PMS1
Disease: Lynch syndrome (ORPHA:144)
Association type: UNKNOWN
Gene: YAP1
Disease: COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION (OMIM:120433)
Association type: MENDELIAN
Gene: YAP1
Disease: Uveal coloboma-cleft lip and palate-intellectual disability (ORPHA:1473)
Association type: UNKNOWN
Gene: YAP1
Disease: Epithelioid hemangioendothelioma (ORPHA:157791)
Association type: UNKNOWN
Gene: RNH1
Disease: ENCEPHALITIS, ACUTE, INFECTION-INDUCED, SUSCEPTIBILITY TO, 12 (OMIM:620461)
Association type: POLYGENIC
Gene: CAP2
Disease: CARDIOMYOPATHY, DILATED, 2I (OMIM:620462)
Association type: MENDELIAN
Gene: CAP2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: SUPT16H
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND THIN CORPUS CALLOSUM (OMIM:619480)
Association type: MENDELIAN
Gene: SUPT16H
Disease: 14q11.2 microduplication syndrome; Dup(14)(q11.2); Trisomy 14q11.2 (ORPHA:261229)
Association type: UNKNOWN
Gene: CRYBA2
Disease: CATARACT 42 (OMIM:115900)
Association type: MENDELIAN
Gene: CRYBA2
Disease: Early-onset nuclear cataract (ORPHA:98991)
Association type: UNKNOWN
Gene: CRYBA2
Disease: Early-onset anterior polar cataract; Early-onset anterior subcapsular cataract (ORPHA:98988)
Association type: UNKNOWN
Gene: SLC51B
Disease: BILE ACID MALABSORPTION, PRIMARY, 2 (OMIM:619481)
Association type: MENDELIAN
Gene: MYO1H
Disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION (OMIM:619482)
Association type: MENDELIAN
Gene: MYO1H
Disease: Congenital central hypoventilation syndrome; CCHS; Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome (ORPHA:661)
Association type: UNKNOWN
Gene: ITPR2
Disease: ANHIDROSIS, ISOLATED, WITH NORMAL SWEAT GLANDS (OMIM:106190)
Association type: MENDELIAN
Gene: ITPR2
Disease: Isolated generalized anhidrosis with normal sweat glands (ORPHA:468666)
Association type: UNKNOWN
Gene: INPPL1
Disease: OPSISMODYSPLASIA (OMIM:258480)
Association type: MENDELIAN
Gene: INPPL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: INPPL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: INPPL1
Disease: Opsismodysplasia (ORPHA:2746)
Association type: UNKNOWN
Gene: INPPL1
Disease: Schneckenbecken dysplasia; Chondrodysplasia with snail-like pelvis; SLC35D1-CDG (ORPHA:3144)
Association type: UNKNOWN
Gene: RNU7-1
Disease: AICARDI-GOUTIERES SYNDROME 9 (OMIM:619487)
Association type: MENDELIAN
Gene: RNU7-1
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: FDFT1
Disease: SQUALENE SYNTHASE DEFICIENCY (OMIM:618156)
Association type: MENDELIAN
Gene: ZNF699
Disease: DEGCAGS SYNDROME (OMIM:619488)
Association type: MENDELIAN
Gene: ZNF699
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: GHRHR
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE IV (OMIM:618157)
Association type: MENDELIAN
Gene: GHRHR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: GHRHR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: GHRHR
Disease: Isolated growth hormone deficiency type IV (ORPHA:684247)
Association type: UNKNOWN
Gene: PAPPA2
Disease: SHORT STATURE, DAUBER-ARGENTE TYPE (OMIM:619489)
Association type: MENDELIAN
Gene: PAPPA2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: PAPPA2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: PAK1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH MACROCEPHALY, SEIZURES, AND SPEECH DELAY (OMIM:618158)
Association type: MENDELIAN
Gene: LBX1
Disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 3 (OMIM:619483)
Association type: MENDELIAN
Gene: LBX1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LBX1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LBX1
Disease: Congenital central hypoventilation syndrome; CCHS; Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome (ORPHA:661)
Association type: UNKNOWN
Gene: CFAP251
Disease: SPERMATOGENIC FAILURE 33 (OMIM:618152)
Association type: MENDELIAN
Gene: CFAP251
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: SLC51A
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 6 (OMIM:619484)
Association type: MENDELIAN
Gene: FSIP2
Disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Association type: MENDELIAN
Gene: FSIP2
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: LSM11
Disease: AICARDI-GOUTIERES SYNDROME 8 (OMIM:619486)
Association type: MENDELIAN
Gene: LSM11
Disease: Aicardi-Goutières syndrome; Encephalopathy with basal ganglia calcification; Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid (ORPHA:51)
Association type: UNKNOWN
Gene: MYF5
Disease: OPHTHALMOPLEGIA, EXTERNAL, WITH RIB AND VERTEBRAL ANOMALIES (OMIM:618155)
Association type: MENDELIAN
Gene: SLC25A38
Disease: ANEMIA, SIDEROBLASTIC, 2, PYRIDOXINE-REFRACTORY (OMIM:205950)
Association type: MENDELIAN
Gene: SLC25A38
Disease: Autosomal recessive sideroblastic anemia; ARSA; Congenital sideroblastic anemia (ORPHA:260305)
Association type: UNKNOWN
Gene: THPO
Disease: THROMBOCYTOPENIA 9 (OMIM:620478)
Association type: MENDELIAN
Gene: THPO
Disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Association type: MENDELIAN
Gene: THPO
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: THPO
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: THPO
Disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Association type: MENDELIAN
Gene: THPO
Disease: Familial thrombocytosis; Familial thrombocythemia; Hereditary thrombocythemia (ORPHA:71493)
Association type: UNKNOWN
Gene: THPO
Disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Association type: UNKNOWN
Gene: THPO
Disease: Thrombocythemia with distal limb defects; Familial thrombocytosis with transverse limb defect; Hereditary thrombocytosis with transverse limb defect (ORPHA:329319)
Association type: UNKNOWN
Gene: THPO
Disease: Hereditary isolated aplastic anemia (ORPHA:397692)
Association type: UNKNOWN
Gene: SMARCAL1
Disease: SCHIMKE IMMUNOOSSEOUS DYSPLASIA (OMIM:242900)
Association type: MENDELIAN
Gene: SMARCAL1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMARCAL1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMARCAL1
Disease: Schimke immuno-osseous dysplasia; Schimke syndrome; Spondyloepiphyseal dysplasia-nephrotic syndrome (ORPHA:1830)
Association type: UNKNOWN
Gene: RPSA
Disease: ASPLENIA, ISOLATED CONGENITAL (OMIM:271400)
Association type: MENDELIAN
Gene: RPSA
Disease: Familial isolated congenital asplenia (ORPHA:101351)
Association type: UNKNOWN
Gene: RNPC3
Disease: ISOLATED GROWTH HORMONE DEFICIENCY, TYPE V (OMIM:618160)
Association type: MENDELIAN
Gene: RNPC3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RNPC3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RNPC3
Disease: Isolated growth hormone deficiency type IA; Congenital IGHD type IA; Congenital isolated GH deficiency type IA; Congenital isolated growth hormone deficiency type IA (ORPHA:231662)
Association type: UNKNOWN
Gene: EDEM3
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v (OMIM:619493)
Association type: MENDELIAN
Gene: EDEM3
Disease:  (ORPHA:695783)
Association type: UNKNOWN
Gene: SIK3
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE (OMIM:618162)
Association type: MENDELIAN
Gene: CHST11
Disease: OSTEOCHONDRODYSPLASIA, BRACHYDACTYLY, AND OVERLAPPING MALFORMED DIGITS (OMIM:618167)
Association type: MENDELIAN
Gene: CHST11
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CHST11
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT2B
Disease: DIARRHEA 9 (OMIM:618168)
Association type: MENDELIAN
Gene: MGP
Disease: KEUTEL SYNDROME (OMIM:245150)
Association type: MENDELIAN
Gene: MGP
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MGP
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MGP
Disease: Keutel syndrome; Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome (ORPHA:85202)
Association type: UNKNOWN
Gene: TRAF7
Disease: CARDIAC, FACIAL, AND DIGITAL ANOMALIES WITH DEVELOPMENTAL DELAY (OMIM:618164)
Association type: MENDELIAN
Gene: TRAF7
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: TRAF7
Disease: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome (ORPHA:592570)
Association type: UNKNOWN
Gene: APOA5
Disease: HYPERTRIGLYCERIDEMIA, FAMILIAL (OMIM:145750)
Association type: POLYGENIC
Gene: APOA5
Disease: HYPERLIPOPROTEINEMIA, TYPE V (OMIM:144650)
Association type: MENDELIAN
Gene: APOA5
Disease: Familial apolipoprotein A5 deficiency; Familial APOA5 deficiency; Familial apolipoprotein A-V deficiency (ORPHA:530849)
Association type: UNKNOWN
Gene: SRSF1
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES (OMIM:620489)
Association type: MENDELIAN
Gene: TPM4
Disease: BLEEDING DISORDER, PLATELET-TYPE, 25 (OMIM:620486)
Association type: MENDELIAN
Gene: TPM4
Disease: Inflammatory myofibroblastic tumor (ORPHA:178342)
Association type: UNKNOWN
Gene: TPM4
Disease: Autosomal dominant macrothrombocytopenia (ORPHA:140957)
Association type: UNKNOWN
Gene: EXT1
Disease: CHONDROSARCOMA (OMIM:215300)
Association type: MENDELIAN
Gene: EXT1
Disease: EXOSTOSES, MULTIPLE, TYPE I (OMIM:133700)
Association type: MENDELIAN
Gene: EXT1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EXT1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EXT1
Disease: Multiple osteochondromas; Bessel-Hagen disease; Multiple cartilaginous exostoses (ORPHA:321)
Association type: UNKNOWN
Gene: EXT1
Disease: Chondrosarcoma (ORPHA:55880)
Association type: UNKNOWN
Gene: EXT1
Disease: Trichorhinophalangeal syndrome type 2; Langer-Giedion syndrome (ORPHA:502)
Association type: UNKNOWN
Gene: PTPRJ
Disease: THROMBOCYTOPENIA 10 (OMIM:620484)
Association type: MENDELIAN
Gene: PTPRJ
Disease: COLORECTAL CANCER (OMIM:114500)
Association type: MENDELIAN
Gene: PTPA
Disease: PARKINSON DISEASE 25, AUTOSOMAL RECESSIVE EARLY-ONSET, WITH IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:620482)
Association type: MENDELIAN
Gene: SPACA1
Disease: SPERMATOGENIC FAILURE 85 (OMIM:620490)
Association type: MENDELIAN
Gene: ADPRS
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES (OMIM:618170)
Association type: MENDELIAN
Gene: ADPRS
Disease:  (ORPHA:694922)
Association type: UNKNOWN
Gene: NUP160
Disease: NEPHROTIC SYNDROME, TYPE 19 (OMIM:618178)
Association type: MENDELIAN
Gene: NUP160
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: NUP37
Disease: MICROCEPHALY 24, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618179)
Association type: MENDELIAN
Gene: NUP37
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: NUP37
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: LDLRAP1
Disease: HYPERCHOLESTEROLEMIA, FAMILIAL, 4 (OMIM:603813)
Association type: MENDELIAN
Gene: LDLRAP1
Disease: Homozygous familial hypercholesterolemia; HoFH (ORPHA:391665)
Association type: UNKNOWN
Gene: ANTXR2
Disease: HYALINE FIBROMATOSIS SYNDROME (OMIM:228600)
Association type: MENDELIAN
Gene: ANTXR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ANTXR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ANTXR2
Disease: Juvenile hyaline fibromatosis; Murray-Puretic-Drescher syndrome; Puretic syndrome (ORPHA:2028)
Association type: UNKNOWN
Gene: ANTXR2
Disease: Infantile systemic hyalinosis (ORPHA:2176)
Association type: UNKNOWN
Gene: CTNNA2
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9 (OMIM:618174)
Association type: MENDELIAN
Gene: DDR2
Disease: WARBURG-CINOTTI SYNDROME (OMIM:618175)
Association type: MENDELIAN
Gene: DDR2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DDR2
Disease: SPONDYLOMETAEPIPHYSEAL DYSPLASIA, SHORT LIMB-HAND TYPE (OMIM:271665)
Association type: MENDELIAN
Gene: DDR2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DDR2
Disease: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome (ORPHA:93358)
Association type: UNKNOWN
Gene: NUP85
Disease: NEPHROTIC SYNDROME, TYPE 17 (OMIM:618176)
Association type: MENDELIAN
Gene: NUP85
Disease: Seckel syndrome (ORPHA:808)
Association type: UNKNOWN
Gene: NUP85
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: ACTL7A
Disease: SPERMATOGENIC FAILURE 86 (OMIM:620499)
Association type: MENDELIAN
Gene: SLC13A5
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA (OMIM:615905)
Association type: MENDELIAN
Gene: SLC13A5
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: SLC13A5
Disease: Amelocerebrohypohidrotic syndrome; Epilepsy-dementia-amelogenesis imperfecta syndrome; Kohlschütter-Tönz syndrome (ORPHA:1946)
Association type: UNKNOWN
Gene: UBAP2L
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE, BEHAVIORAL ABNORMALITIES, AND DYSMORPHIC FACIES (OMIM:620494)
Association type: MENDELIAN
Gene: RPS29
Disease: DIAMOND-BLACKFAN ANEMIA 13 (OMIM:615909)
Association type: MENDELIAN
Gene: RPS29
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: GM2A
Disease: GM2-GANGLIOSIDOSIS, AB VARIANT (OMIM:272750)
Association type: MENDELIAN
Gene: GM2A
Disease: GM2 gangliosidosis, AB variant; Hexosaminidase activator deficiency (ORPHA:309246)
Association type: UNKNOWN
Gene: RORA
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA (OMIM:618060)
Association type: MENDELIAN
Gene: RORA
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: DNAJB11
Disease: POLYCYSTIC KIDNEY DISEASE 6 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:618061)
Association type: MENDELIAN
Gene: DNAJB11
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: CFAP300
Disease: CILIARY DYSKINESIA, PRIMARY, 38 (OMIM:618063)
Association type: MENDELIAN
Gene: CFAP300
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: FZD6
Disease: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1 (OMIM:161050)
Association type: MENDELIAN
Gene: FZD6
Disease: Autosomal recessive nail dysplasia (ORPHA:280654)
Association type: UNKNOWN
Gene: CLCN4
Disease: RAYNAUD-CLAES SYNDROME (OMIM:300114)
Association type: MENDELIAN
Gene: CLCN4
Disease: X-linked non-syndromic intellectual disability (ORPHA:777)
Association type: UNKNOWN
Gene: CLCN4
Disease: CLCN4-related X-linked intellectual disability syndrome; Raynaud-Claes syndrome (ORPHA:485350)
Association type: UNKNOWN
Gene: SNORA31
Disease: ENCEPHALOPATHY, ACUTE, INFECTION-INDUCED (HERPES-SPECIFIC), SUSCEPTIBILITY TO, 10 (OMIM:619396)
Association type: POLYGENIC
Gene: EXOSC9
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 1D (OMIM:618065)
Association type: MENDELIAN
Gene: EXOSC9
Disease: Pontocerebellar hypoplasia type 1; Norman disease; PCH1 (ORPHA:2254)
Association type: UNKNOWN
Gene: IL37
Disease: INFLAMMATORY BOWEL DISEASE (INFANTILE ULCERATIVE COLITIS) 31, AUTOSOMAL RECESSIVE (OMIM:619398)
Association type: MENDELIAN
Gene: PACS2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 66 (OMIM:618067)
Association type: MENDELIAN
Gene: PACS2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: TCIRG1
Disease: OSTEOPETROSIS, AUTOSOMAL RECESSIVE 1 (OMIM:259700)
Association type: MENDELIAN
Gene: TCIRG1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TCIRG1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TCIRG1
Disease: Intermediate osteopetrosis; Autosomal recessive intermediate osteopetrosis (ORPHA:210110)
Association type: UNKNOWN
Gene: TCIRG1
Disease: Autosomal recessive malignant osteopetrosis; Infantile malignant osteopetrosis (ORPHA:667)
Association type: UNKNOWN
Gene: TCIRG1
Disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Association type: UNKNOWN
Gene: TCIRG1
Disease: Dysosteosclerosis (ORPHA:1782)
Association type: UNKNOWN
Gene: TNNT1
Disease: NEMALINE MYOPATHY 5C, AUTOSOMAL DOMINANT (OMIM:620389)
Association type: MENDELIAN
Gene: TNNT1
Disease: NEMALINE MYOPATHY 5B, AUTOSOMAL RECESSIVE, CHILDHOOD-ONSET (OMIM:620386)
Association type: MENDELIAN
Gene: TNNT1
Disease: NEMALINE MYOPATHY 5 (OMIM:605355)
Association type: MENDELIAN
Gene: TNNT1
Disease: Amish nemaline myopathy (ORPHA:98902)
Association type: UNKNOWN
Gene: ATP11A
Disease: AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT 2 (OMIM:620384)
Association type: MENDELIAN
Gene: ATP11A
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 24 (OMIM:619851)
Association type: MENDELIAN
Gene: ATP11A
Disease: DEAFNESS, AUTOSOMAL DOMINANT 84 (OMIM:619810)
Association type: MENDELIAN
Gene: ATP11A
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: ATP11A
Disease: Idiopathic pulmonary fibrosis; IPF (ORPHA:2032)
Association type: UNKNOWN
Gene: ZEB2
Disease: MOWAT-WILSON SYNDROME (OMIM:235730)
Association type: MENDELIAN
Gene: ZEB2
Disease: Mowat-Wilson syndrome due to a ZEB2 point mutation; Hirschsprung disease and intellectual disability due to a ZEB2 point mutation (ORPHA:261552)
Association type: UNKNOWN
Gene: ZEB2
Disease: Mowat-Wilson syndrome due to monosomy 2q22; Hirschsprung disease and intellectual disability due to 2q22 microdeletion; Hirschsprung disease and intellectual disability due to del(2)(q22); Hirschsprung disease and intellectual disability due to monosomy 2q22; Mowat-Wilson syndrome due to 2q22 microdeletion; Mowat-Wilson syndrome due to del(2)q(22) (ORPHA:261537)
Association type: UNKNOWN
Gene: ZEB2
Disease: Large/giant congenital melanocytic nevus; LGCMN; Large/giant CMN syndrome; Large/giant congenital pigmented nevus (ORPHA:626)
Association type: UNKNOWN
Gene: MOS
Disease: OOCYTE/ZYGOTE/EMBRYO MATURATION ARREST 20 (OMIM:620383)
Association type: MENDELIAN
Gene: TNRC6A
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 6 (OMIM:618074)
Association type: MENDELIAN
Gene: LIMA1
Disease: LOW DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 8 (OMIM:618079)
Association type: MENDELIAN
Gene: RAPGEF2
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 7 (OMIM:618075)
Association type: MENDELIAN
Gene: ERGIC1
Disease: ARTHROGRYPOSIS MULTIPLEX CONGENITA 2, NEUROGENIC TYPE (OMIM:208100)
Association type: MENDELIAN
Gene: ERGIC1
Disease: Neurogenic arthrogryposis multiplex congenita (ORPHA:1143)
Association type: UNKNOWN
Gene: UFC1
Disease: NEURODEVELOPMENTAL DISORDER WITH SPASTICITY AND POOR GROWTH (OMIM:618076)
Association type: MENDELIAN
Gene: INAVA
Disease: INFLAMMATORY BOWEL DISEASE 29 (OMIM:618077)
Association type: POLYGENIC
Gene: PGAP1
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42 (OMIM:615802)
Association type: MENDELIAN
Gene: PGAP1
Disease: Autosomal recessive spastic paraplegia type 67; SPG67 (ORPHA:401820)
Association type: UNKNOWN
Gene: PGAP1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: CLP1
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 10 (OMIM:615803)
Association type: MENDELIAN
Gene: CLP1
Disease: Pontocerebellar hypoplasia type 10; CLP1-related pontocerebellar hypoplasia; PCH10 (ORPHA:411493)
Association type: UNKNOWN
Gene: CD96
Disease: C SYNDROME (OMIM:211750)
Association type: MENDELIAN
Gene: CD96
Disease: C syndrome; OTCS; Opitz C trigonocephaly; Opitz trigonocephaly C syndrome; Opitz trigonocephaly syndrome; Trigonocephaly C syndrome (ORPHA:1308)
Association type: UNKNOWN
Gene: AMT
Disease: GLYCINE ENCEPHALOPATHY 2 (OMIM:620398)
Association type: MENDELIAN
Gene: AMT
Disease: Neonatal glycine encephalopathy; Classic glycine encephalopathy; Neonatal NKH; Neonatal non-ketotic hyperglycinemia (ORPHA:289857)
Association type: UNKNOWN
Gene: AMT
Disease: Atypical glycine encephalopathy; Atypical NKA; Atypical non-ketotic hyperglycinemia (ORPHA:289863)
Association type: UNKNOWN
Gene: AMT
Disease: Infantile glycine encephalopathy; Infantile NKH; Infantile non-ketotic hyperglycinemia (ORPHA:289860)
Association type: UNKNOWN
Gene: PIKFYVE
Disease: CORNEAL DYSTROPHY, FLECK (OMIM:121850)
Association type: MENDELIAN