TaoMedAI/RareMedData huggingface dataset:
Gene: ZNFX1
Disease: IMMUNODEFICIENCY 91 AND HYPERINFLAMMATION (OMIM:619644)
Association type: MENDELIAN
Gene: RPS15A
Disease: DIAMOND-BLACKFAN ANEMIA 20 (OMIM:618313)
Association type: MENDELIAN
Gene: RPS15A
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: MECR
Disease: OPTIC ATROPHY 16 (OMIM:620629)
Association type: MENDELIAN
Gene: MECR
Disease: DYSTONIA, CHILDHOOD-ONSET, WITH OPTIC ATROPHY AND BASAL GANGLIA ABNORMALITIES (OMIM:617282)
Association type: MENDELIAN
Gene: MECR
Disease: MEPAN syndrome; Autosomal recessive childhood-onset dystonia, DYT29 type; Childhood-onset generalized dystonia-optic atrophy syndrome; DYT29; Dystonia 29; Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome (ORPHA:508093)
Association type: UNKNOWN
Gene: PHLDB1
Disease: OSTEOGENESIS IMPERFECTA, TYPE XXIII (OMIM:620639)
Association type: MENDELIAN
Gene: PHLDB1
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: PHLDB1
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: CAPRIN1
Disease: NEURODEGENERATION, CHILDHOOD-ONSET, WITH CEREBELLAR ATAXIA AND COGNITIVE DECLINE (OMIM:620636)
Association type: MENDELIAN
Gene: CAPRIN1
Disease: NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT, AUTISM, AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER (OMIM:620782)
Association type: MENDELIAN
Gene: CAPRIN1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: TERB2
Disease: SPERMATOGENIC FAILURE 59 (OMIM:619645)
Association type: MENDELIAN
Gene: TERB2
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: ATP1A1
Disease: HYPOMAGNESEMIA, SEIZURES, AND MENTAL RETARDATION 2 (OMIM:618314)
Association type: MENDELIAN
Gene: ATP1A1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2DD (OMIM:618036)
Association type: MENDELIAN
Gene: ATP1A1
Disease: Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (ORPHA:564178)
Association type: UNKNOWN
Gene: ATP1A1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2DD; ATP1A1-related CMT2; ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2; CMT2DD (ORPHA:521414)
Association type: UNKNOWN
Gene: FLII
Disease: CARDIOMYOPATHY, DILATED, 2J (OMIM:620635)
Association type: MENDELIAN
Gene: FLII
Disease: Smith-Magenis syndrome; 17p11.2 microdeletion syndrome (ORPHA:819)
Association type: UNKNOWN
Gene: TERB1
Disease: SPERMATOGENIC FAILURE 60 (OMIM:619646)
Association type: MENDELIAN
Gene: TERB1
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: RNF31
Disease: IMMUNODEFICIENCY 115 WITH AUTOINFLAMMATION (OMIM:620632)
Association type: MENDELIAN
Gene: RNF31
Disease: Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis (ORPHA:329173)
Association type: UNKNOWN
Gene: ADCY5
Disease: DYSKINESIA WITH OROFACIAL INVOLVEMENT, AUTOSOMAL RECESSIVE (OMIM:619647)
Association type: MENDELIAN
Gene: ADCY5
Disease: NEURODEVELOPMENTAL DISORDER WITH HYPERKINETIC MOVEMENTS AND DYSKINESIA (OMIM:619651)
Association type: MENDELIAN
Gene: ADCY5
Disease: DYSKINESIA, FAMILIAL, WITH FACIAL MYOKYMIA (OMIM:606703)
Association type: MENDELIAN
Gene: ADCY5
Disease: Benign hereditary chorea; BHC; Benign familial chorea (ORPHA:1429)
Association type: UNKNOWN
Gene: ADCY5
Disease: Familial dyskinesia and facial myokymia; FDFM (ORPHA:324588)
Association type: UNKNOWN
Gene: TMEM94
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC DEFECTS AND DYSMORPHIC FACIES (OMIM:618316)
Association type: MENDELIAN
Gene: TMEM94
Disease: TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome (ORPHA:562569)
Association type: UNKNOWN
Gene: WLS
Disease: ZAKI SYNDROME (OMIM:619648)
Association type: MENDELIAN
Gene: MYORG
Disease: BASAL GANGLIA CALCIFICATION, IDIOPATHIC, 7, AUTOSOMAL RECESSIVE (OMIM:618317)
Association type: MENDELIAN
Gene: MYORG
Disease: Bilateral striopallidodentate calcinosis; BSPDC; Cerebrovascular ferrocalcinosis; Idiopathic basal ganglia calcification; PFBC; Primary familial brain calcification (ORPHA:1980)
Association type: UNKNOWN
Gene: SOST
Disease: VAN BUCHEM DISEASE (OMIM:239100)
Association type: MENDELIAN
Gene: SOST
Disease: CRANIODIAPHYSEAL DYSPLASIA, AUTOSOMAL DOMINANT (OMIM:122860)
Association type: MENDELIAN
Gene: SOST
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SOST
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SOST
Disease: SCLEROSTEOSIS 1 (OMIM:269500)
Association type: MENDELIAN
Gene: SOST
Disease: Sclerosteosis; Cortical hyperostosis-syndactyly syndrome (ORPHA:3152)
Association type: UNKNOWN
Gene: SOST
Disease: Craniodiaphyseal dysplasia (ORPHA:1513)
Association type: UNKNOWN
Gene: SOST
Disease: Hyperostosis corticalis generalisata; Hyperphosphatasemia tarda; Van Buchem disease (ORPHA:3416)
Association type: UNKNOWN
Gene: HYAL1
Disease: MUCOPOLYSACCHARIDOSIS, TYPE IX (OMIM:601492)
Association type: MENDELIAN
Gene: HYAL1
Disease: Hyaluronidase deficiency; MPS9; MPSIX; Mucopolysaccharidosis type 9; Mucopolysaccharidosis type IX (ORPHA:67041)
Association type: UNKNOWN
Gene: EDNRB
Disease: HIRSCHSPRUNG DISEASE, SUSCEPTIBILITY TO, 2 (OMIM:600155)
Association type: POLYGENIC
Gene: EDNRB
Disease: WAARDENBURG SYNDROME, TYPE 4A (OMIM:277580)
Association type: MENDELIAN
Gene: EDNRB
Disease: ABCD SYNDROME (OMIM:600501)
Association type: MENDELIAN
Gene: EDNRB
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: EDNRB
Disease: Waardenburg-Shah syndrome; Shah-Waardenburg syndrome; WS4; Waardenburg syndrome type 4; Waardenburg-Hirschsprung syndrome (ORPHA:897)
Association type: UNKNOWN
Gene: EDNRB
Disease: Waardenburg syndrome type 2; WS2; Waardenburg syndrome type II (ORPHA:895)
Association type: UNKNOWN
Gene: LBR
Disease: GREENBERG DYSPLASIA (OMIM:215140)
Association type: MENDELIAN
Gene: LBR
Disease: REYNOLDS SYNDROME (OMIM:613471)
Association type: MENDELIAN
Gene: LBR
Disease: PELGER-HUET ANOMALY (OMIM:169400)
Association type: MENDELIAN
Gene: LBR
Disease: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES (OMIM:618019)
Association type: MENDELIAN
Gene: LBR
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LBR
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LBR
Disease: Greenberg dysplasia; HEM dysplasia; Hydrops-ectopic calcification-motheaten syndrome; Skeletal dysplasia, Greenberg type (ORPHA:1426)
Association type: UNKNOWN
Gene: LBR
Disease: Reynolds syndrome; Primary biliary cirrhosis and systemic scleroderma (ORPHA:779)
Association type: UNKNOWN
Gene: LBR
Disease: Regressive spondylometaphyseal dysplasia (ORPHA:448267)
Association type: UNKNOWN
Gene: REL
Disease: IMMUNODEFICIENCY 92 (OMIM:619652)
Association type: MENDELIAN
Gene: REL
Disease:  (ORPHA:697394)
Association type: UNKNOWN
Gene: NAXD
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN EDEMA AND/OR LEUKOENCEPHALOPATHY, 2 (OMIM:618321)
Association type: MENDELIAN
Gene: NAXD
Disease: NAD(P)HX dehydratase deficiency; CARKD deficiency (ORPHA:555402)
Association type: UNKNOWN
Gene: TNR
Disease: NEURODEVELOPMENTAL DISORDER, NONPROGRESSIVE, WITH SPASTICITY AND TRANSIENT OPISTHOTONUS (OMIM:619653)
Association type: MENDELIAN
Gene: VAMP1
Disease: MYASTHENIC SYNDROME, CONGENITAL, 25, PRESYNAPTIC (OMIM:618323)
Association type: MENDELIAN
Gene: VAMP1
Disease: SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT (OMIM:108600)
Association type: MENDELIAN
Gene: VAMP1
Disease: Autosomal dominant spastic ataxia type 1; SPAX1 (ORPHA:251282)
Association type: UNKNOWN
Gene: VAMP1
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: FCSK
Disease: CONGENITAL DISORDER OF GLYCOSYLATION WITH DEFECTIVE FUCOSYLATION 2 (OMIM:618324)
Association type: MENDELIAN
Gene: MICOS13
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37 (OMIM:618329)
Association type: MENDELIAN
Gene: MICOS13
Disease: 3-methylglutaconic aciduria type 3; Autosomal recessive optic atrophy plus syndrome; Autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; Costeff syndrome; Infantile optic atrophy with chorea and spastic paraplegia; MGA3 (ORPHA:67047)
Association type: UNKNOWN
Gene: RRM1
Disease: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 6 (OMIM:620647)
Association type: MENDELIAN
Gene: MACF1
Disease: LISSENCEPHALY 9 WITH COMPLEX BRAINSTEM MALFORMATION (OMIM:618325)
Association type: MENDELIAN
Gene: MACF1
Disease: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (ORPHA:572013)
Association type: UNKNOWN
Gene: MRPL39
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59 (OMIM:620646)
Association type: MENDELIAN
Gene: USP53
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 7, WITH OR WITHOUT HEARING LOSS (OMIM:619658)
Association type: MENDELIAN
Gene: GLS
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 71 (OMIM:618328)
Association type: MENDELIAN
Gene: GLS
Disease: INFANTILE CATARACT, SKIN ABNORMALITIES, GLUTAMATE EXCESS, AND IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618339)
Association type: MENDELIAN
Gene: GLS
Disease: GLOBAL DEVELOPMENTAL DELAY, PROGRESSIVE ATAXIA, AND ELEVATED GLUTAMINE (OMIM:618412)
Association type: MENDELIAN
Gene: GLS
Disease: Spastic ataxia-dysarthria due to glutaminase deficiency (ORPHA:557056)
Association type: UNKNOWN
Gene: GLS
Disease: Neonatal epileptic encephalopathy due to glutaminase deficiency (ORPHA:557064)
Association type: UNKNOWN
Gene: DRG1
Disease: TAN-ALMURSHEDI SYNDROME (OMIM:620641)
Association type: MENDELIAN
Gene: CLXN
Disease: CILIARY DYSKINESIA, PRIMARY, 53 (OMIM:620642)
Association type: MENDELIAN
Gene: ARL6
Disease: BARDET-BIEDL SYNDROME 3 (OMIM:600151)
Association type: MENDELIAN
Gene: ARL6
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ARL6
Disease: RETINITIS PIGMENTOSA (OMIM:268000)
Association type: MENDELIAN
Gene: ARL6
Disease: BARDET-BIEDL SYNDROME 1 (OMIM:209900)
Association type: POLYGENIC
Gene: ARL6
Disease: RETINITIS PIGMENTOSA 55 (OMIM:613575)
Association type: MENDELIAN
Gene: ARL6
Disease: Bardet-Biedl syndrome; BBS (ORPHA:110)
Association type: UNKNOWN
Gene: ARL6
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: VANGL1
Disease: SACRAL DEFECT WITH ANTERIOR MENINGOCELE (OMIM:600145)
Association type: MENDELIAN
Gene: VANGL1
Disease: NEURAL TUBE DEFECTS, SUSCEPTIBILITY TO (OMIM:182940)
Association type: POLYGENIC
Gene: VANGL1
Disease: Caudal regression syndrome; Caudal dysgenesis syndrome; Caudal dysplasia; Caudal regression sequence (ORPHA:3027)
Association type: UNKNOWN
Gene: CYBB
Disease: GRANULOMATOUS DISEASE, CHRONIC, X-LINKED (OMIM:306400)
Association type: MENDELIAN
Gene: CYBB
Disease: IMMUNODEFICIENCY 34 (OMIM:300645)
Association type: MENDELIAN
Gene: CYBB
Disease: Chronic granulomatous disease; CGD; Chronic septic granulomatosis (ORPHA:379)
Association type: UNKNOWN
Gene: CYBB
Disease: X-linked mendelian susceptibility to mycobacterial diseases; X-linked MSMD (ORPHA:319605)
Association type: UNKNOWN
Gene: SPIDR
Disease: OVARIAN DYSGENESIS 9 (OMIM:619665)
Association type: MENDELIAN
Gene: SPIDR
Disease: 46,XX gonadal dysgenesis; 46,XX complete gonadal dysgenesis; 46,XX ovarian dysgenesis; 46,XX pure gonadal dysgenesis; Hypergonadotropic ovarian dysgenesis; XX female gonadal dysgenesis; XX-GD (ORPHA:243)
Association type: UNKNOWN
Gene: SEC63
Disease: POLYCYSTIC LIVER DISEASE 2 WITH OR WITHOUT KIDNEY CYSTS (OMIM:617004)
Association type: MENDELIAN
Gene: SEC63
Disease: Isolated polycystic liver disease; ADPCLD; Autosomal dominant polycystic liver disease; PCLD (ORPHA:2924)
Association type: UNKNOWN
Gene: CUX1
Disease: GLOBAL DEVELOPMENTAL DELAY WITH OR WITHOUT IMPAIRED INTELLECTUAL DEVELOPMENT (OMIM:618330)
Association type: MENDELIAN
Gene: CUX1
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: KIF12
Disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 8 (OMIM:619662)
Association type: MENDELIAN
Gene: TRAPPC2L
Disease: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH EPISODIC RHABDOMYOLYSIS (OMIM:618331)
Association type: MENDELIAN
Gene: ADD3
Disease: CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 (OMIM:617008)
Association type: MENDELIAN
Gene: ADD3
Disease: Inherited congenital spastic tetraplegia; Inherited congenital spastic quadriplegia (ORPHA:210141)
Association type: UNKNOWN
Gene: LYZ
Disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 5 (OMIM:620658)
Association type: MENDELIAN
Gene: LYZ
Disease: ALys amyloidosis; Familial amyloid nephropathy due to lysozyme variant; Familial renal amyloidosis due to lysozyme variant; Hereditary amyloid nephropathy due to lysozyme variant; Hereditary renal amyloidosis due to lysozyme variant; Lysozyme amyloidosis (ORPHA:93561)
Association type: UNKNOWN
Gene: B2M
Disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 6 (OMIM:620659)
Association type: MENDELIAN
Gene: B2M
Disease: IMMUNODEFICIENCY 43 (OMIM:241600)
Association type: MENDELIAN
Gene: B2M
Disease: Immunodeficiency by defective expression of MHC class I; Bare lymphocyte syndrome type 1; MHC class I deficiency (ORPHA:34592)
Association type: UNKNOWN
Gene: B2M
Disease: Variant ABeta2M amyloidosis; Autosomal dominant beta2-microglobulinic amyloidosis (ORPHA:314652)
Association type: UNKNOWN
Gene: APOA1
Disease: AMYLOIDOSIS, HEREDITARY SYSTEMIC 3 (OMIM:620657)
Association type: MENDELIAN
Gene: APOA1
Disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2, INTERMEDIATE (OMIM:619836)
Association type: MENDELIAN
Gene: APOA1
Disease: HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2 (OMIM:618463)
Association type: MENDELIAN
Gene: APOA1
Disease: Apolipoprotein A-I deficiency; ApoA-I deficiency; Familial apoA-I deficiency; Familial hypoalphalipoproteinemia (ORPHA:425)
Association type: UNKNOWN
Gene: APOA1
Disease: AApoAI amyloidosis; Apolipoprotein A-I amyloidosis; Familial amyloid nephropathy due to apolipoprotein A-I variant; Familial renal amyloidosis due to apolipoprotein A-I variant; Hereditary amyloid nephropathy due to apolipoprotein A-I variant; Hereditary renal amyloidosis due to apolipoprotein A-I variant (ORPHA:93560)
Association type: UNKNOWN
Gene: RAP1B
Disease: THROMBOCYTOPENIA 11 WITH MULTIPLE CONGENITAL ANOMALIES AND DYSMORPHIC FACIES (OMIM:620654)
Association type: MENDELIAN
Gene: RAP1GDS1
Disease: ALFADHEL SYNDROME (OMIM:620655)
Association type: MENDELIAN
Gene: CASP2
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 80, WITH VARIANT LISSENCEPHALY (OMIM:620653)
Association type: MENDELIAN
Gene: MANF
Disease: DIABETES, DEAFNESS, DEVELOPMENTAL DELAY, AND SHORT STATURE SYNDROME (OMIM:620651)
Association type: MENDELIAN
Gene: TULP1
Disease: RETINITIS PIGMENTOSA 14 (OMIM:600132)
Association type: MENDELIAN
Gene: TULP1
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: TULP1
Disease: LEBER CONGENITAL AMAUROSIS 15 (OMIM:613843)
Association type: MENDELIAN
Gene: TULP1
Disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Association type: UNKNOWN
Gene: TULP1
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: PRPF31
Disease: RETINITIS PIGMENTOSA 11 (OMIM:600138)
Association type: MENDELIAN
Gene: PRPF31
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: PRPF31
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: HERC1
Disease: MACROCEPHALY, DYSMORPHIC FACIES, AND PSYCHOMOTOR RETARDATION (OMIM:617011)
Association type: MENDELIAN
Gene: HERC1
Disease: Megalencephaly-severe kyphoscoliosis-overgrowth syndrome (ORPHA:457359)
Association type: UNKNOWN
Gene: AHR
Disease: RETINITIS PIGMENTOSA 85 (OMIM:618345)
Association type: MENDELIAN
Gene: AHR
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: AHR
Disease:  (OMIM:620958)
Association type: MENDELIAN
Gene: AHR
Disease: Retinitis pigmentosa (ORPHA:791)
Association type: UNKNOWN
Gene: WDR4
Disease: MICROCEPHALY, GROWTH DEFICIENCY, SEIZURES, AND BRAIN MALFORMATIONS (OMIM:618346)
Association type: MENDELIAN
Gene: WDR4
Disease: GALLOWAY-MOWAT SYNDROME 6 (OMIM:618347)
Association type: MENDELIAN
Gene: WDR4
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: STAG3
Disease: SPERMATOGENIC FAILURE 61 (OMIM:619672)
Association type: MENDELIAN
Gene: STAG3
Disease: PREMATURE OVARIAN FAILURE 8 (OMIM:615723)
Association type: MENDELIAN
Gene: STAG3
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: QRICH2
Disease: SPERMATOGENIC FAILURE 35 (OMIM:618341)
Association type: MENDELIAN
Gene: SLC39A14
Disease: HYPERMANGANESEMIA WITH DYSTONIA 2 (OMIM:617013)
Association type: MENDELIAN
Gene: SLC39A14
Disease: HYPEROSTOSIS CRANIALIS INTERNA (OMIM:144755)
Association type: MENDELIAN
Gene: SLC39A14
Disease: Dystonia-parkinsonism-hypermanganesemia syndrome (ORPHA:521406)
Association type: UNKNOWN
Gene: RNF212
Disease: SPERMATOGENIC FAILURE 62 (OMIM:619673)
Association type: MENDELIAN
Gene: RNF212
Disease: RECOMBINATION RATE QUANTITATIVE TRAIT LOCUS 1 (OMIM:612042)
Association type: MENDELIAN
Gene: RNF212
Disease: Male infertility with azoospermia or oligozoospermia due to single gene mutation (ORPHA:399805)
Association type: UNKNOWN
Gene: PUS7
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH ABNORMAL BEHAVIOR, MICROCEPHALY, AND SHORT STATURE (OMIM:618342)
Association type: MENDELIAN
Gene: PUS7
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: MME
Disease: SPINOCEREBELLAR ATAXIA 43 (OMIM:617018)
Association type: MENDELIAN
Gene: MME
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T (OMIM:617017)
Association type: MENDELIAN
Gene: MME
Disease: MME-related autosomal dominant Charcot Marie Tooth disease type 2; MME-related autosomal dominant CMT2; MME-related autosomal dominant hereditary motor and sensory neuropathy type 2 (ORPHA:497757)
Association type: UNKNOWN
Gene: MME
Disease: Spinocerebellar ataxia type 43; SCA43 (ORPHA:497764)
Association type: UNKNOWN
Gene: MME
Disease: Charcot-Marie-Tooth disease type 2T; AR-CMT2T; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T; CMT2T (ORPHA:495274)
Association type: UNKNOWN
Gene: MME
Disease: Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization; Alloimmune neonatal renal disease; FMAIG; Fetomaternal alloimmunization with antenatal glomerulopathies; Neonatal glomerulopathy due to neprilysin alloimmunization; Neonatal membranous glomerulopathy with maternal NEP deficiency; Neonatal membranous glomerulopathy with maternal neutral endopeptidase deficiency (ORPHA:69063)
Association type: UNKNOWN
Gene: IRF1
Disease: IMMUNODEFICIENCY 117 (OMIM:620668)
Association type: MENDELIAN
Gene: IRF1
Disease: LUNG CANCER (OMIM:211980)
Association type: MENDELIAN
Gene: IRF1
Disease: GASTRIC CANCER (OMIM:613659)
Association type: MENDELIAN
Gene: IRF1
Disease:  (ORPHA:699615)
Association type: UNKNOWN
Gene: NUP133
Disease: GALLOWAY-MOWAT SYNDROME 8 (OMIM:618349)
Association type: MENDELIAN
Gene: NUP133
Disease: NEPHROTIC SYNDROME, TYPE 18 (OMIM:618177)
Association type: MENDELIAN
Gene: NUP133
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: NUP133
Disease: Galloway-Mowat syndrome; Galloway syndrome; Microcephaly-hiatus hernia-nephrotic syndrome; Nephrosis-neuronal dysmigration syndrome (ORPHA:2065)
Association type: UNKNOWN
Gene: ERI1
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GUO-CAMPEAU TYPE (OMIM:620663)
Association type: MENDELIAN
Gene: ERI1
Disease: HOXHA-ALIU SYNDROME (OMIM:620662)
Association type: MENDELIAN
Gene: KRT9
Disease: PALMOPLANTAR KERATODERMA, EPIDERMOLYTIC (OMIM:144200)
Association type: MENDELIAN
Gene: KRT9
Disease: Epidermolytic palmoplantar keratoderma; Diffuse erythrodermic palmoplantar keratoderma, Voerner type; Diffuse erythrodermic palmoplantar keratoderma, Vörner type; EPPK; Epidermolytic palmoplantar keratoderma of Voerner; Epidermolytic palmoplantar keratoderma of Vörner (ORPHA:2199)
Association type: UNKNOWN
Gene: PRKAR1B
Disease: MARBACH-SCHAAF NEURODEVELOPMENTAL SYNDROME (OMIM:619680)
Association type: MENDELIAN
Gene: PRKAR1B
Disease:  (ORPHA:692173)
Association type: UNKNOWN
Gene: PRKAR1B
Disease: PRKAR1B-related neurodegenerative dementia with intermediate filaments (ORPHA:412066)
Association type: UNKNOWN
Gene: SLC29A3
Disease: HISTIOCYTOSIS-LYMPHADENOPATHY PLUS SYNDROME (OMIM:602782)
Association type: MENDELIAN
Gene: SLC29A3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SLC29A3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SLC29A3
Disease: H syndrome (ORPHA:168569)
Association type: UNKNOWN
Gene: SLC29A3
Disease: Dysosteosclerosis (ORPHA:1782)
Association type: UNKNOWN
Gene: AGPS
Disease: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 3 (OMIM:600121)
Association type: MENDELIAN
Gene: AGPS
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: AGPS
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: AGPS
Disease: Rhizomelic chondrodysplasia punctata type 3 (ORPHA:309803)
Association type: UNKNOWN
Gene: NDRG1
Disease: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4D (OMIM:601455)
Association type: MENDELIAN
Gene: NDRG1
Disease: Charcot-Marie-Tooth disease type 4D; CMT4D; HMSN, Lom type; HMSN-Lom; Hereditary motor and sensory neuropathy, Lom type (ORPHA:99950)
Association type: UNKNOWN
Gene: VPS50
Disease: NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS (OMIM:619685)
Association type: MENDELIAN
Gene: PPP2CA
Disease: NEURODEVELOPMENTAL DISORDER AND LANGUAGE DELAY WITH OR WITHOUT STRUCTURAL BRAIN ABNORMALITIES (OMIM:618354)
Association type: MENDELIAN
Gene: PPP2CA
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: RNF170
Disease: SPASTIC PARAPLEGIA 85, AUTOSOMAL RECESSIVE (OMIM:619686)
Association type: MENDELIAN
Gene: RNF170
Disease: ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT (OMIM:608984)
Association type: MENDELIAN
Gene: RNF170
Disease: Autosomal recessive spastic paraplegia type 85 (ORPHA:631082)
Association type: UNKNOWN
Gene: NFASC
Disease: NEURODEVELOPMENTAL DISORDER WITH CENTRAL AND PERIPHERAL MOTOR DYSFUNCTION (OMIM:618356)
Association type: MENDELIAN
Gene: ARV1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 38 (OMIM:617020)
Association type: MENDELIAN
Gene: RNF220
Disease: LEUKODYSTROPHY, HYPOMYELINATING, 23, WITH ATAXIA, DEAFNESS, LIVER DYSFUNCTION, AND DILATED CARDIOMYOPATHY (OMIM:619688)
Association type: MENDELIAN
Gene: RORB
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 15 (OMIM:618357)
Association type: POLYGENIC
Gene: ATP5MC3
Disease: DYSTONIA, EARLY-ONSET, AND/OR SPASTIC PARAPLEGIA (OMIM:619681)
Association type: MENDELIAN
Gene: TSEN15
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 2F (OMIM:617026)
Association type: MENDELIAN
Gene: TSEN15
Disease: Pontocerebellar hypoplasia type 2; PCH2 (ORPHA:2524)
Association type: UNKNOWN
Gene: TRAPPC14
Disease: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:618351)
Association type: MENDELIAN
Gene: TRAPPC14
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: GNB3
Disease: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1H (OMIM:617024)
Association type: MENDELIAN