TaoMedAI/RareMedData huggingface dataset:
Gene: TNFRSF10B
Disease: Squamous cell carcinoma of the oral cavity (ORPHA:502363)
Association type: UNKNOWN
Gene: TNFRSF10B
Disease: Squamous cell carcinoma of the lip (ORPHA:502366)
Association type: UNKNOWN
Gene: TNFRSF10B
Disease: Squamous cell carcinoma of the oropharynx (ORPHA:500478)
Association type: UNKNOWN
Gene: TNFRSF10B
Disease: Squamous cell carcinoma of the nasal cavity and paranasal sinuses; Squamous cell carcinoma of the nasal cavity and sinuses (ORPHA:500464)
Association type: UNKNOWN
Gene: ING1
Disease: SQUAMOUS CELL CARCINOMA, HEAD AND NECK (OMIM:275355)
Association type: MENDELIAN
Gene: ING1
Disease: Squamous cell carcinoma of the hypopharynx (ORPHA:494547)
Association type: UNKNOWN
Gene: ING1
Disease: Squamous cell carcinoma of the larynx (ORPHA:494550)
Association type: UNKNOWN
Gene: ING1
Disease: Squamous cell carcinoma of the oral cavity (ORPHA:502363)
Association type: UNKNOWN
Gene: ING1
Disease: Squamous cell carcinoma of the lip (ORPHA:502366)
Association type: UNKNOWN
Gene: ING1
Disease: Squamous cell carcinoma of the oropharynx (ORPHA:500478)
Association type: UNKNOWN
Gene: ING1
Disease: Squamous cell carcinoma of the nasal cavity and paranasal sinuses; Squamous cell carcinoma of the nasal cavity and sinuses (ORPHA:500464)
Association type: UNKNOWN
Gene: BPGM
Disease: ERYTHROCYTOSIS, FAMILIAL, 8 (OMIM:222800)
Association type: MENDELIAN
Gene: BPGM
Disease: Autosomal recessive secondary polycythemia not associated with VHL gene; Autosomal recessive secondary erythrocytosis not associated with VHL gene; Autosomal recessive secondary erythrocytosis, non-Chuvash type; Autosomal recessive secondary polycythemia, non-Chuvash type (ORPHA:247378)
Association type: UNKNOWN
Gene: BPGM
Disease: Hemolytic anemia due to diphosphoglycerate mutase deficiency (ORPHA:714)
Association type: UNKNOWN
Gene: AICDA
Disease: IMMUNODEFICIENCY WITH HYPER-IgM, TYPE 2 (OMIM:605258)
Association type: MENDELIAN
Gene: AICDA
Disease: Hyper-IgM syndrome type 2; AID deficiency; Activation-induced cytidine deaminase deficiency; HIGM2 (ORPHA:101089)
Association type: UNKNOWN
Gene: KCNC3
Disease: SPINOCEREBELLAR ATAXIA 13 (OMIM:605259)
Association type: MENDELIAN
Gene: KCNC3
Disease: Spinocerebellar ataxia type 13; SCA13 (ORPHA:98768)
Association type: UNKNOWN
Gene: XBP1
Disease: MAJOR AFFECTIVE DISORDER 7 (OMIM:612371)
Association type: POLYGENIC
Gene: EIF2AK4
Disease: PULMONARY VENOOCCLUSIVE DISEASE 2, AUTOSOMAL RECESSIVE (OMIM:234810)
Association type: MENDELIAN
Gene: EIF2AK4
Disease: Pulmonary capillary hemangiomatosis (ORPHA:199241)
Association type: UNKNOWN
Gene: EIF2AK4
Disease: Heritable pulmonary arterial hypertension; FPAH; Familial pulmonary arterial hypertension; HPAH; Hereditary pulmonary arterial hypertension (ORPHA:275777)
Association type: UNKNOWN
Gene: EIF2AK4
Disease: Pulmonary venoocclusive disease (ORPHA:31837)
Association type: UNKNOWN
Gene: RARA
Disease: ACUTE PROMYELOCYTIC LEUKEMIA (OMIM:612376)
Association type: MENDELIAN
Gene: RARA
Disease: Acute promyelocytic leukemia; AML M3; AML with t(15;17)(q22;q12);(PML/RARalpha) and variants; APML; Acute myeloblastic leukemia 3; Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants (ORPHA:520)
Association type: UNKNOWN
Gene: FAAH
Disease: POLYSUBSTANCE ABUSE, SUSCEPTIBILITY TO (OMIM:606581)
Association type: POLYGENIC
Gene: BTNL2
Disease: SARCOIDOSIS, SUSCEPTIBILITY TO, 2 (OMIM:612387)
Association type: POLYGENIC
Gene: BTNL2
Disease: Sarcoidosis; Besnier-Boeck-Schaumann disease; Boeck sarcoid (ORPHA:797)
Association type: UNKNOWN
Gene: TSEN2
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2B (OMIM:612389)
Association type: MENDELIAN
Gene: TSEN2
Disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Association type: UNKNOWN
Gene: TSEN34
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2C (OMIM:612390)
Association type: MENDELIAN
Gene: TSEN34
Disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Association type: UNKNOWN
Gene: IRAK3
Disease: ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 5 (OMIM:611064)
Association type: POLYGENIC
Gene: PTGER2
Disease: ASTHMA, NASAL POLYPS, AND ASPIRIN INTOLERANCE (OMIM:208550)
Association type: POLYGENIC
Gene: HCRT
Disease: NARCOLEPSY 1 (OMIM:161400)
Association type: MENDELIAN
Gene: HCRT
Disease: Narcolepsy type 2; Narcolepsy without cataplexy (ORPHA:83465)
Association type: UNKNOWN
Gene: HCRT
Disease: Narcolepsy type 1; Gélineau disease; Hypocretin/orexin deficiency syndrome; Narcolepsy-cataplexy (ORPHA:2073)
Association type: UNKNOWN
Gene: STARD7
Disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 2 (OMIM:607876)
Association type: MENDELIAN
Gene: ATG16L1
Disease: INFLAMMATORY BOWEL DISEASE (CROHN DISEASE) 10 (OMIM:611081)
Association type: POLYGENIC
Gene: CCDC62
Disease: SPERMATOGENIC FAILURE 67 (OMIM:619803)
Association type: MENDELIAN
Gene: STRADA
Disease: POLYHYDRAMNIOS, MEGALENCEPHALY, AND SYMPTOMATIC EPILEPSY (OMIM:611087)
Association type: MENDELIAN
Gene: STRADA
Disease: Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome; PMSE syndrome (ORPHA:500533)
Association type: UNKNOWN
Gene: ATP2B2
Disease: DEAFNESS, AUTOSOMAL DOMINANT 82 (OMIM:619804)
Association type: MENDELIAN
Gene: ATP2B2
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: CATSPERT
Disease: SPERMATOGENIC FAILURE 68 (OMIM:619805)
Association type: MENDELIAN
Gene: PIK3CG
Disease: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION (OMIM:619802)
Association type: MENDELIAN
Gene: NSUN2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 5 (OMIM:611091)
Association type: MENDELIAN
Gene: NSUN2
Disease: Dubowitz syndrome (ORPHA:235)
Association type: UNKNOWN
Gene: NSUN2
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: TUSC3
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 7 (OMIM:611093)
Association type: MENDELIAN
Gene: TUSC3
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: TAPBP
Disease: MHC CLASS I DEFICIENCY 3 (OMIM:620814)
Association type: MENDELIAN
Gene: TAPBP
Disease: Immunodeficiency by defective expression of MHC class I; Bare lymphocyte syndrome type 1; MHC class I deficiency (ORPHA:34592)
Association type: UNKNOWN
Gene: RFXANK
Disease: MHC CLASS II DEFICIENCY 2 (OMIM:620815)
Association type: MENDELIAN
Gene: RFXANK
Disease: Immunodeficiency by defective expression of MHC class II; Bare lymphocyte syndrome type 2; MHC class II deficiency (ORPHA:572)
Association type: UNKNOWN
Gene: GGN
Disease: SPERMATOGENIC FAILURE 69 (OMIM:619826)
Association type: MENDELIAN
Gene: GGN
Disease: Male infertility due to globozoospermia; Male infertility due to round-headed spermatozoa; Round-headed sperm syndrome (ORPHA:171709)
Association type: UNKNOWN
Gene: PIDD1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 75, WITH NEUROPSYCHIATRIC FEATURES AND VARIANT LISSENCEPHALY (OMIM:619827)
Association type: MENDELIAN
Gene: TAP2
Disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Association type: MENDELIAN
Gene: TAP2
Disease: Immunodeficiency by defective expression of MHC class I; Bare lymphocyte syndrome type 1; MHC class I deficiency (ORPHA:34592)
Association type: UNKNOWN
Gene: PDHA2
Disease: SPERMATOGENIC FAILURE 70 (OMIM:619828)
Association type: MENDELIAN
Gene: PDHA2
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: AK9
Disease: SPERMATOGENIC FAILURE 89 (OMIM:620705)
Association type: MENDELIAN
Gene: AK9
Disease: Postsynaptic congenital myasthenic syndromes (ORPHA:98913)
Association type: UNKNOWN
Gene: NAA20
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 73 (OMIM:619717)
Association type: MENDELIAN
Gene: NAA20
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: DLG5
Disease: YUKSEL-VOGEL-BAUER SYNDROME (OMIM:620703)
Association type: MENDELIAN
Gene: ASCC3
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 81 (OMIM:620700)
Association type: MENDELIAN
Gene: DNHD1
Disease: SPERMATOGENIC FAILURE 65 (OMIM:619712)
Association type: MENDELIAN
Gene: DNHD1
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: DNHD1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: TAT
Disease: TYROSINEMIA, TYPE II (OMIM:276600)
Association type: MENDELIAN
Gene: TAT
Disease: Tyrosinemia type 2; Keratosis palmoplantaris-corneal dystrophy syndrome; Oculocutaneous tyrosinemia; Richner-Hanhart syndrome; Tyrosinemia due to TAT deficiency; Tyrosinemia due to tyrosine aminotransferase deficiency; Tyrosinemia type II (ORPHA:28378)
Association type: UNKNOWN
Gene: WDR73
Disease: GALLOWAY-MOWAT SYNDROME 1 (OMIM:251300)
Association type: MENDELIAN
Gene: WDR73
Disease: CAMOS syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5 (ORPHA:83472)
Association type: UNKNOWN
Gene: WDR73
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: SRD5A2
Disease: PSEUDOVAGINAL PERINEOSCROTAL HYPOSPADIAS (OMIM:264600)
Association type: MENDELIAN
Gene: SRD5A2
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: SRD5A2
Disease: 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency; 46,XY DSD due to 5-alpha-reductase 2 deficiency; 46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency; Pseudovaginal perineoscrotal hypospadias; Steroid 5-alpha-reductase 2 deficiency (ORPHA:753)
Association type: UNKNOWN
Gene: H3-3A
Disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619720)
Association type: MENDELIAN
Gene: H3-3B
Disease: BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619721)
Association type: MENDELIAN
Gene: FANCC
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Association type: MENDELIAN
Gene: FANCC
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP C (OMIM:227645)
Association type: MENDELIAN
Gene: FANCC
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: FANCA
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP A (OMIM:227650)
Association type: MENDELIAN
Gene: FANCA
Disease: Fanconi anemia; Fanconi pancytopenia (ORPHA:84)
Association type: UNKNOWN
Gene: APOLD1
Disease: BLEEDING DISORDER, VASCULAR-TYPE (OMIM:620715)
Association type: MENDELIAN
Gene: TMEM53
Disease: CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE (OMIM:619727)
Association type: MENDELIAN
Gene: TMTC4
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 122 (OMIM:620714)
Association type: MENDELIAN
Gene: KCNN2
Disease: DYSTONIA 34, MYOCLONIC (OMIM:619724)
Association type: MENDELIAN
Gene: KCNN2
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES (OMIM:619725)
Association type: MENDELIAN
Gene: PUM1
Disease: NEURODEVELOPMENTAL DISORDER WITH MOTOR ABNORMALITIES, SEIZURES, AND FACIAL DYSMORPHISM (OMIM:620719)
Association type: MENDELIAN
Gene: PUM1
Disease: PUM1-related cerebellar ataxia; Adult-onset SCA47; Adult-onset spinocerebellar ataxia type 47 (ORPHA:642747)
Association type: UNKNOWN
Gene: PUM1
Disease: PUM1-associated developmental disability-ataxia-seizure syndrome; PADDAS syndrome (ORPHA:589515)
Association type: UNKNOWN
Gene: RAB34
Disease: OROFACIODIGITAL SYNDROME XX (OMIM:620718)
Association type: MENDELIAN
Gene: PRORP
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54 (OMIM:619737)
Association type: MENDELIAN
Gene: PRORP
Disease: Perrault syndrome type 2; XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations (ORPHA:642976)
Association type: UNKNOWN
Gene: PRORP
Disease: Perrault syndrome type 1; XX gonadal dysgenesis-deafness syndrome-without neurological manifestations (ORPHA:642945)
Association type: UNKNOWN
Gene: MC4R
Disease: BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 (OMIM:618406)
Association type: MENDELIAN
Gene: MC4R
Disease: Obesity due to melanocortin 4 receptor deficiency; MC4R deficiency (ORPHA:71529)
Association type: UNKNOWN
Gene: RSRC1
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 70 (OMIM:618402)
Association type: MENDELIAN
Gene: RSRC1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: ABHD16A
Disease: SPASTIC PARAPLEGIA 86, AUTOSOMAL RECESSIVE (OMIM:619735)
Association type: MENDELIAN
Gene: ABHD16A
Disease: Autosomal recessive spastic paraplegia type 86 (ORPHA:631085)
Association type: UNKNOWN
Gene: DEGS1
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 18 (OMIM:618404)
Association type: MENDELIAN
Gene: TFAP2A
Disease: BRANCHIOOCULOFACIAL SYNDROME (OMIM:113620)
Association type: MENDELIAN
Gene: TFAP2A
Disease: Branchio-oculo-facial syndrome; BOFS (ORPHA:1297)
Association type: UNKNOWN
Gene: POLRMT
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55 (OMIM:619743)
Association type: MENDELIAN
Gene: STAB1
Disease: HYPERFERRITINEMIA (OMIM:620729)
Association type: MENDELIAN
Gene: UBAP1
Disease: SPASTIC PARAPLEGIA 80, AUTOSOMAL DOMINANT (OMIM:618418)
Association type: MENDELIAN
Gene: UBAP1
Disease: Autosomal dominant spastic paraplegia type 12; SPG12 (ORPHA:100993)
Association type: UNKNOWN
Gene: UBAP1
Disease: Autosomal dominant spastic paraplegia type 80 (ORPHA:631068)
Association type: UNKNOWN
Gene: PPP2R3C
Disease: GONADAL DYSGENESIS, DYSMORPHIC FACIES, RETINAL DYSTROPHY, AND MYOPATHY (OMIM:618419)
Association type: MENDELIAN
Gene: PPP2R3C
Disease: SPERMATOGENIC FAILURE 36 (OMIM:618420)
Association type: MENDELIAN
Gene: MYL1
Disease: MYOPATHY, CONGENITAL, WITH FAST-TWITCH (TYPE II) FIBER ATROPHY (OMIM:618414)
Association type: MENDELIAN
Gene: MYL1
Disease: Congenital myopathy with reduced type 2 muscle fibers; Congenital myopathy with fast-twitch fiber atrophy; Congenital myopathy with reduced type II muscle fibers; Congenital myopathy with type 2 muscle fiber atrophy; Congenital myopathy with type II fiber atrophy (ORPHA:544602)
Association type: UNKNOWN
Gene: FZD5
Disease: MICROPHTHALMIA/COLOBOMA 11 (OMIM:620731)
Association type: MENDELIAN
Gene: FZD5
Disease: Coloboma of optic disc; Coloboma of optic papilla (ORPHA:98947)
Association type: UNKNOWN
Gene: FZD5
Disease: Coloboma of eye lens (ORPHA:98943)
Association type: UNKNOWN
Gene: FZD5
Disease: Coloboma of iris (ORPHA:98944)
Association type: UNKNOWN
Gene: FZD5
Disease: Coloboma of macula (ORPHA:98945)
Association type: UNKNOWN
Gene: FZD5
Disease: Coloboma of eyelid (ORPHA:98946)
Association type: UNKNOWN
Gene: FZD5
Disease: Coloboma of choroid and retina (ORPHA:98942)
Association type: UNKNOWN
Gene: DNMBP
Disease: CATARACT 48 (OMIM:618415)
Association type: MENDELIAN
Gene: DNMBP
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: PI4K2A
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS, SEIZURES, AND STRUCTURAL BRAIN ABNORMALITIES (OMIM:620732)
Association type: MENDELIAN
Gene: BAG5
Disease: CARDIOMYOPATHY, DILATED, 2F (OMIM:619747)
Association type: MENDELIAN
Gene: BAG5
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: SLC25A42
Disease: METABOLIC CRISES, RECURRENT, WITH VARIABLE ENCEPHALOMYOPATHIC FEATURES AND NEUROLOGIC REGRESSION (OMIM:618416)
Association type: MENDELIAN
Gene: GDF15
Disease: HYPEREMESIS GRAVIDARUM, SUSCEPTIBILITY TO (OMIM:620730)
Association type: POLYGENIC
Gene: PPIP5K2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 100 (OMIM:618422)
Association type: MENDELIAN
Gene: PPIP5K2
Disease: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB; Autosomal recessive isolated neurosensory deafness type DFNB; Autosomal recessive isolated neurosensory hearing loss type DFNB; Autosomal recessive isolated sensorineural deafness type DFNB; Autosomal recessive isolated sensorineural hearing loss type DFNB; Autosomal recessive non-syndromic neurosensory deafness type DFNB; Autosomal recessive non-syndromic neurosensory hearing loss type DFNB; Autosomal recessive non-syndromic sensorineural hearing loss type DFNB (ORPHA:90636)
Association type: UNKNOWN
Gene: H4C11
Disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 2 (OMIM:619759)
Association type: MENDELIAN
Gene: TTC21A
Disease: SPERMATOGENIC FAILURE 37 (OMIM:618429)
Association type: MENDELIAN
Gene: TTC21A
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: SLC4A10
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND CHARACTERISTIC BRAIN ABNORMALITIES (OMIM:620746)
Association type: MENDELIAN
Gene: SLC4A10
Disease: Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome; SLC4A10-related neurodevelopmental disorder (ORPHA:664430)
Association type: UNKNOWN
Gene: PTRHD1
Disease: NEURODEVELOPMENTAL DISORDER WITH EARLY-ONSET PARKINSONISM AND BEHAVIORAL ABNORMALITIES (OMIM:620747)
Association type: MENDELIAN
Gene: ARMC12
Disease: SPERMATOGENIC FAILURE 90 (OMIM:620744)
Association type: MENDELIAN
Gene: ARMC12
Disease: Male infertility due to large-headed multiflagellar polyploid spermatozoa; Macrocephalic sperm head syndrome; Male infertility due to macrozoospermia (ORPHA:137893)
Association type: UNKNOWN
Gene: NHLH2
Disease: HYPOGONADOTROPIC HYPOGONADISM 27 WITHOUT ANOSMIA (OMIM:619755)
Association type: MENDELIAN
Gene: NHLH2
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: STX4
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 123 (OMIM:620745)
Association type: MENDELIAN
Gene: ZNF142
Disease: NEURODEVELOPMENTAL DISORDER WITH IMPAIRED SPEECH AND HYPERKINETIC MOVEMENTS (OMIM:618425)
Association type: MENDELIAN
Gene: ZNF142
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: H4C3
Disease: TESSADORI-BICKNELL-VAN HAAFTEN NEURODEVELOPMENTAL SYNDROME 1 (OMIM:619758)
Association type: MENDELIAN
Gene: H4C3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MEI1
Disease: HYDATIDIFORM MOLE, RECURRENT, 3 (OMIM:618431)
Association type: MENDELIAN
Gene: MEI1
Disease: Complete hydatidiform mole; Complete molar pregnancy (ORPHA:254688)
Association type: UNKNOWN
Gene: TOP6BL
Disease: HYDATIDIFORM MOLE, RECURRENT, 4 (OMIM:618432)
Association type: MENDELIAN
Gene: TOP6BL
Disease: Complete hydatidiform mole; Complete molar pregnancy (ORPHA:254688)
Association type: UNKNOWN
Gene: ARMC2
Disease: SPERMATOGENIC FAILURE 38 (OMIM:618433)
Association type: MENDELIAN
Gene: ARMC2
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: BCL11A
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH PERSISTENCE OF FETAL HEMOGLOBIN (OMIM:617101)
Association type: MENDELIAN
Gene: BCL11A
Disease: Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome; HPFH-sickle cell disease syndrome (ORPHA:251380)
Association type: UNKNOWN
Gene: BCL11A
Disease: Hereditary persistence of fetal hemoglobin-intellectual disability syndrome; Dias-Logan syndrome (ORPHA:619233)
Association type: UNKNOWN
Gene: TCF20
Disease: DEVELOPMENTAL DELAY WITH VARIABLE INTELLECTUAL IMPAIRMENT AND BEHAVIORAL ABNORMALITIES (OMIM:618430)
Association type: MENDELIAN
Gene: TCF20
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: FIBP
Disease: THAUVIN-ROBINET-FAIVRE SYNDROME (OMIM:617107)
Association type: MENDELIAN
Gene: FIBP
Disease: Tall stature-intellectual disability-renal anomalies syndrome; Thauvin-Robinet-Faivre syndrome (ORPHA:500095)
Association type: UNKNOWN
Gene: SLC1A2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 41 (OMIM:617105)
Association type: MENDELIAN
Gene: SLC1A2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: SLC32A1
Disease: GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 12 (OMIM:620755)
Association type: MENDELIAN
Gene: SLC32A1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 114 (OMIM:620774)
Association type: MENDELIAN
Gene: SLC32A1
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: TNNT3
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 2B2 (OMIM:618435)
Association type: MENDELIAN
Gene: TNNT3
Disease: Sheldon-Hall syndrome; DA2B; Distal arthrogryposis multiplex congenita type 2B; Distal arthrogryposis type 2B; Freeman-Sheldon syndrome variant; SSH (ORPHA:1147)
Association type: UNKNOWN
Gene: TNNT3
Disease: Distal arthrogryposis type 1; DA1; Digitotalar dysmorphism (ORPHA:1146)
Association type: UNKNOWN
Gene: RPA1
Disease: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 6 (OMIM:619767)
Association type: MENDELIAN
Gene: PARS2
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 75 (OMIM:618437)
Association type: MENDELIAN
Gene: PARS2
Disease: Non-specific early-onset epileptic encephalopathy; Non-specific EOEE; Undetermined EOEE; Undetermined early-onset epileptic encephalopathy (ORPHA:442835)
Association type: UNKNOWN
Gene: ZBTB7A
Disease: MACROCEPHALY, NEURODEVELOPMENTAL DELAY, LYMPHOID HYPERPLASIA, AND PERSISTENT FETAL HEMOGLOBIN (OMIM:619769)
Association type: MENDELIAN
Gene: ZBTB7A
Disease:  (ORPHA:694956)
Association type: UNKNOWN
Gene: CHP1
Disease: SPASTIC ATAXIA 9, AUTOSOMAL RECESSIVE (OMIM:618438)
Association type: MENDELIAN
Gene: DGCR8
Disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Association type: MENDELIAN
Gene: DGCR6
Disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Association type: MENDELIAN
Gene: ESS2
Disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Association type: MENDELIAN
Gene: DGCR2
Disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Association type: MENDELIAN
Gene: ATP7B
Disease: WILSON DISEASE (OMIM:277900)
Association type: MENDELIAN
Gene: ATP7B
Disease: Wilson disease; Hepatolenticular degeneration (ORPHA:905)
Association type: UNKNOWN
Gene: LIG1
Disease: IMMUNODEFICIENCY 96 (OMIM:619774)
Association type: MENDELIAN
Gene: MAPK8IP3
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE BRAIN ABNORMALITIES (OMIM:618443)
Association type: MENDELIAN
Gene: MAPK8IP3
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MAN2C1
Disease: CONGENITAL DISORDER OF DEGLYCOSYLATION 2 (OMIM:619775)
Association type: MENDELIAN
Gene: MAN2C1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: KY
Disease: MYOPATHY, MYOFIBRILLAR, 7 (OMIM:617114)
Association type: MENDELIAN
Gene: KY
Disease: Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome (ORPHA:496686)
Association type: UNKNOWN
Gene: KY
Disease: Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome; Kyphoscoliosis-lateral tongue atrophy-HSP syndrome (ORPHA:496689)
Association type: UNKNOWN
Gene: GABRB3
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 43 (OMIM:617113)
Association type: MENDELIAN