TaoMedAI/RareMedData huggingface dataset:
Gene: FGFR1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGFR1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGFR1
Disease: OSTEOGLOPHONIC DYSPLASIA (OMIM:166250)
Association type: MENDELIAN
Gene: FGFR1
Disease: JACKSON-WEISS SYNDROME (OMIM:123150)
Association type: MENDELIAN
Gene: FGFR1
Disease: PFEIFFER SYNDROME (OMIM:101600)
Association type: MENDELIAN
Gene: FGFR1
Disease: Giant cell glioblastoma (ORPHA:251579)
Association type: UNKNOWN
Gene: FGFR1
Disease: Gliosarcoma (ORPHA:251576)
Association type: UNKNOWN
Gene: FGFR1
Disease: Septo-optic dysplasia spectrum; De Morsier syndrome; SOD; Septo-optic dysplasia (ORPHA:3157)
Association type: UNKNOWN
Gene: FGFR1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: FGFR1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: FGFR1
Disease: Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement; 8p11 myeloproliferative syndrome; Stem cell leukemia/lymphoma (ORPHA:168953)
Association type: UNKNOWN
Gene: FGFR1
Disease: Primary hypereosinophilic syndrome; Clonal hypereosinophilic syndrome; HES-M; HES-N; Neoplastic hypereosinophilic syndrome; Primary HES (ORPHA:314950)
Association type: UNKNOWN
Gene: FGFR1
Disease: Non-syndromic metopic craniosynostosis; Isolated metopic craniosynostosis; Isolated trigonocephaly; Non-syndromic metopic suture synostosis (ORPHA:3366)
Association type: UNKNOWN
Gene: FGFR1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: FGFR1
Disease: Osteoglosphonic dysplasia; Osteoglophonic dwarfism (ORPHA:2645)
Association type: UNKNOWN
Gene: FGFR1
Disease: Encephalocraniocutaneous lipomatosis; Haberland syndrome (ORPHA:2396)
Association type: UNKNOWN
Gene: FGFR1
Disease: Pfeiffer syndrome type 1; Classic Pfeiffer syndrome (ORPHA:93258)
Association type: UNKNOWN
Gene: FGFR1
Disease: Hartsfield syndrome; Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome (ORPHA:2117)
Association type: UNKNOWN
Gene: FGFR1
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: FGFR1
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: FGFR1
Disease: Oligodontia; Selective tooth agenesis (ORPHA:99798)
Association type: UNKNOWN
Gene: FGFR1
Disease: Pilomyxoid astrocytoma (ORPHA:251615)
Association type: UNKNOWN
Gene: AXL
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: FEZF1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: FEZF1
Disease: HYPOGONADOTROPIC HYPOGONADISM 22 WITH OR WITHOUT ANOSMIA (OMIM:616030)
Association type: MENDELIAN
Gene: FEZF1
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: WDR11
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: WDR11
Disease: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 78 (OMIM:620237)
Association type: MENDELIAN
Gene: WDR11
Disease: HYPOGONADOTROPIC HYPOGONADISM 14 WITH OR WITHOUT ANOSMIA (OMIM:614858)
Association type: MENDELIAN
Gene: WDR11
Disease: Pituitary stalk interruption syndrome; Ectopic neurohypophysis; PSIS (ORPHA:95496)
Association type: UNKNOWN
Gene: WDR11
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: WDR11
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: TACR3
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: TACR3
Disease: HYPOGONADOTROPIC HYPOGONADISM 11 WITH OR WITHOUT ANOSMIA (OMIM:614840)
Association type: MENDELIAN
Gene: TACR3
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: TACR3
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: KISS1R
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: KISS1R
Disease: PRECOCIOUS PUBERTY, CENTRAL, 1 (OMIM:176400)
Association type: MENDELIAN
Gene: KISS1R
Disease: HYPOGONADOTROPIC HYPOGONADISM 8 WITH OR WITHOUT ANOSMIA (OMIM:614837)
Association type: MENDELIAN
Gene: KISS1R
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: KISS1R
Disease: Genetic central precocious puberty in male; Genetic CPP in boy; Genetic CPP in male; Genetic central precocious puberty in boy (ORPHA:650097)
Association type: UNKNOWN
Gene: KISS1R
Disease: Genetic central precocious puberty in female; Genetic CPP in female; Genetic CPP in girl; Genetic central precocious puberty in girl (ORPHA:650077)
Association type: UNKNOWN
Gene: FGF8
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: FGF8
Disease: HYPOGONADOTROPIC HYPOGONADISM 6 WITH OR WITHOUT ANOSMIA (OMIM:612702)
Association type: MENDELIAN
Gene: FGF8
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: FGF8
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: FGF8
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: FGF8
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: FGF8
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: FGF8
Disease: Midline interhemispheric variant of holoprosencephaly; MIH; MIH type HPE; MIHF; MIHV; Middle interhemispheric fusion variant; Middle interhemispheric variant of holoprosencephaly; Syntelencephaly (ORPHA:93926)
Association type: UNKNOWN
Gene: FGF8
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: FGF8
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: FGF8
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: FGF8
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: SEMA3A
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: SEMA3A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SEMA3A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SEMA3A
Disease: HYPOGONADOTROPIC HYPOGONADISM 16 WITH OR WITHOUT ANOSMIA (OMIM:614897)
Association type: POLYGENIC
Gene: SEMA3A
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: SEMA3A
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: GNRH1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: GNRH1
Disease: HYPOGONADOTROPIC HYPOGONADISM 12 WITH OR WITHOUT ANOSMIA (OMIM:614841)
Association type: MENDELIAN
Gene: GNRH1
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: ANOS1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: ANOS1
Disease: HYPOGONADOTROPIC HYPOGONADISM 1 WITH OR WITHOUT ANOSMIA (OMIM:308700)
Association type: MENDELIAN
Gene: ANOS1
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: TAC3
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: TAC3
Disease: HYPOGONADOTROPIC HYPOGONADISM 10 WITH OR WITHOUT ANOSMIA (OMIM:614839)
Association type: MENDELIAN
Gene: TAC3
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: HS6ST1
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: HS6ST1
Disease: HYPOGONADOTROPIC HYPOGONADISM 15 WITH OR WITHOUT ANOSMIA (OMIM:614880)
Association type: POLYGENIC
Gene: HS6ST1
Disease: Kallmann syndrome; Congenital hypogonadotropic hypogonadism with anosmia; Olfacto-genital pathological sequence (ORPHA:478)
Association type: UNKNOWN
Gene: HS6ST1
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: GNRHR
Disease: HYPOGONADOTROPIC HYPOGONADISM 7 WITH OR WITHOUT ANOSMIA (OMIM:146110)
Association type: MENDELIAN
Gene: GNRHR
Disease: Normosmic congenital hypogonadotropic hypogonadism; Normosmic idiopathic hypogonadotropic hypogonadism; nIHH (ORPHA:432)
Association type: UNKNOWN
Gene: APTX
Disease: ATAXIA, EARLY-ONSET, WITH OCULOMOTOR APRAXIA AND HYPOALBUMINEMIA (OMIM:208920)
Association type: MENDELIAN
Gene: APTX
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 1 (OMIM:607426)
Association type: MENDELIAN
Gene: APTX
Disease: Ataxia-oculomotor apraxia type 1; AOA1 (ORPHA:1168)
Association type: UNKNOWN
Gene: NARS2
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 24 (OMIM:616239)
Association type: MENDELIAN
Gene: NARS2
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 94 (OMIM:618434)
Association type: MENDELIAN
Gene: NARS2
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: NARS2
Disease: Combined oxidative phosphorylation defect type 24; COXPD24 (ORPHA:444458)
Association type: UNKNOWN
Gene: NARS2
Disease: DEND syndrome; Developmental delay-epilepsy-neonatal diabetes syndrome (ORPHA:79134)
Association type: UNKNOWN
Gene: SULT2B1
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 14 (OMIM:617571)
Association type: MENDELIAN
Gene: SULT2B1
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: SULT2B1
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: DNAH1
Disease: SPERMATOGENIC FAILURE 18 (OMIM:617576)
Association type: MENDELIAN
Gene: DNAH1
Disease: CILIARY DYSKINESIA, PRIMARY, 37 (OMIM:617577)
Association type: MENDELIAN
Gene: DNAH1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: DNAH1
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: SGPL1
Disease: NEPHROTIC SYNDROME, TYPE 14 (OMIM:617575)
Association type: MENDELIAN
Gene: SGPL1
Disease: Familial steroid-resistant nephrotic syndrome with adrenal insufficiency; Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency; SPLIS; Sphingosine phosphate lyase insufficiency syndrome (ORPHA:506334)
Association type: UNKNOWN
Gene: SDR9C7
Disease: ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 13 (OMIM:617574)
Association type: MENDELIAN
Gene: SDR9C7
Disease: Lamellar ichthyosis; LI (ORPHA:313)
Association type: UNKNOWN
Gene: SDR9C7
Disease: Congenital ichthyosiform erythroderma; CIE; Erythrodermic ichthyosis; Non-bullous congenital ichthyosiform erythroderma (ORPHA:79394)
Association type: UNKNOWN
Gene: ABCA5
Disease: HYPERTRICHOSIS, CONGENITAL GENERALIZED, WITH OR WITHOUT GINGIVAL HYPERPLASIA (OMIM:135400)
Association type: MENDELIAN
Gene: ABCA5
Disease: Gingival fibromatosis-hypertrichosis syndrome; CGHT; Congenital generalized hypertrichosis terminalis; Hirsutism-congenital gingival hyperplasia syndrome; Hypertrichosis with or without gingival hyperplasia (ORPHA:2026)
Association type: UNKNOWN
Gene: CALM2
Disease: LONG QT SYNDROME 15 (OMIM:616249)
Association type: MENDELIAN
Gene: CALM2
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CALM2
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CALM2
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: ZBTB42
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 6 (OMIM:616248)
Association type: MENDELIAN
Gene: CALM1
Disease: LONG QT SYNDROME 14 (OMIM:616247)
Association type: MENDELIAN
Gene: CALM1
Disease: VENTRICULAR ARRHYTHMIAS DUE TO CARDIAC RYANODINE RECEPTOR CALCIUM RELEASE DEFICIENCY SYNDROME (OMIM:115000)
Association type: MENDELIAN
Gene: CALM1
Disease: VENTRICULAR TACHYCARDIA, CATECHOLAMINERGIC POLYMORPHIC, 4 (OMIM:614916)
Association type: MENDELIAN
Gene: CALM1
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CALM1
Disease: Catecholaminergic polymorphic ventricular tachycardia; Bidirectional ventricular tachycardia induced by catecholamine; CPVT; Malignant paroxysmal ventricular tachycardia; Polymorphic ventricular tachycardia induced by catecholamines (ORPHA:3286)
Association type: UNKNOWN
Gene: SLC5A1
Disease: GLUCOSE/GALACTOSE MALABSORPTION (OMIM:606824)
Association type: MENDELIAN
Gene: SLC5A1
Disease: Glucose-galactose malabsorption; SGLT1 deficiency (ORPHA:35710)
Association type: UNKNOWN
Gene: LCAT
Disease: LECITHIN:CHOLESTEROL ACYLTRANSFERASE DEFICIENCY (OMIM:245900)
Association type: MENDELIAN
Gene: LCAT
Disease: FISH-EYE DISEASE (OMIM:136120)
Association type: MENDELIAN
Gene: LCAT
Disease: Fish-eye disease; FED; Partial LCAT deficiency (ORPHA:79292)
Association type: UNKNOWN
Gene: LCAT
Disease: Familial LCAT deficiency; Complete LCAT deficiency; FLD; Norum disease (ORPHA:79293)
Association type: UNKNOWN
Gene: RELB
Disease: IMMUNODEFICIENCY 53 (OMIM:617585)
Association type: MENDELIAN
Gene: RELB
Disease: Combined immunodeficiency due to RELB deficiency; CID due to RELB deficiency; Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency (ORPHA:688594)
Association type: UNKNOWN
Gene: ATG5
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 25 (OMIM:617584)
Association type: MENDELIAN
Gene: KRT12
Disease: CORNEAL DYSTROPHY, MEESMANN, 1 (OMIM:122100)
Association type: MENDELIAN
Gene: KRT12
Disease: Meesmann corneal dystrophy; Juvenile hereditary epithelial dystrophy of Meesmann; MECD (ORPHA:98954)
Association type: UNKNOWN
Gene: KIF14
Disease: MECKEL SYNDROME 12 (OMIM:616258)
Association type: MENDELIAN
Gene: KIF14
Disease: MICROCEPHALY 20, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617914)
Association type: MENDELIAN
Gene: KIF14
Disease: Autosomal recessive primary microcephaly; MCPH; Microcephalia vera; Microcephaly vera; True microcephaly (ORPHA:2512)
Association type: UNKNOWN
Gene: KIF14
Disease: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome (ORPHA:439897)
Association type: UNKNOWN
Gene: PTRH2
Disease: NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET (OMIM:616263)
Association type: MENDELIAN
Gene: PTRH2
Disease: Infantile multisystem neurologic-endocrine-pancreatic disease; IMNEPD (ORPHA:456312)
Association type: UNKNOWN
Gene: CFAP44
Disease: SPERMATOGENIC FAILURE 20 (OMIM:617593)
Association type: MENDELIAN
Gene: CFAP44
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: CFAP43
Disease: SPERMATOGENIC FAILURE 19 (OMIM:617592)
Association type: MENDELIAN
Gene: CFAP43
Disease: HYDROCEPHALUS, NORMAL-PRESSURE, 1 (OMIM:236690)
Association type: MENDELIAN
Gene: CFAP43
Disease: Non-syndromic male infertility due to sperm motility disorder; Non-syndromic male infertility due asthenozoospermia (ORPHA:276234)
Association type: UNKNOWN
Gene: PSMB4
Disease: PROTEASOME-ASSOCIATED AUTOINFLAMMATORY SYNDROME 3 (OMIM:617591)
Association type: MENDELIAN
Gene: RNF125
Disease: TENORIO SYNDROME (OMIM:616260)
Association type: MENDELIAN
Gene: TRIP13
Disease: MOSAIC VARIEGATED ANEUPLOIDY SYNDROME 3 (OMIM:617598)
Association type: MENDELIAN
Gene: TRIP13
Disease: OOCYTE MATURATION DEFECT 9 (OMIM:619011)
Association type: MENDELIAN
Gene: TRIP13
Disease: Mosaic variegated aneuploidy syndrome; Warburton-Anyane-Yeboa syndrome (ORPHA:1052)
Association type: UNKNOWN
Gene: TRIP13
Disease: Nephroblastoma; Renal embryonic tumor; Wilms tumor (ORPHA:654)
Association type: UNKNOWN
Gene: PNKP
Disease: ATAXIA-OCULOMOTOR APRAXIA 4 (OMIM:616267)
Association type: MENDELIAN
Gene: PNKP
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2B2 (OMIM:605589)
Association type: MENDELIAN
Gene: PNKP
Disease: MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
Association type: MENDELIAN
Gene: PNKP
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: PNKP
Disease: Ataxia-oculomotor apraxia type 4; AOA4 (ORPHA:459033)
Association type: UNKNOWN
Gene: PNKP
Disease: Charcot-Marie-Tooth disease type 2B2; AR-CMT2B2; Autosomal recessive axonal CMT4C3; Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2 (ORPHA:101101)
Association type: UNKNOWN
Gene: NALCN
Disease: CONGENITAL CONTRACTURES OF THE LIMBS AND FACE, HYPOTONIA, AND DEVELOPMENTAL DELAY (OMIM:616266)
Association type: MENDELIAN
Gene: NALCN
Disease: HYPOTONIA, INFANTILE, WITH PSYCHOMOTOR RETARDATION AND CHARACTERISTIC FACIES 1 (OMIM:615419)
Association type: MENDELIAN
Gene: NALCN
Disease: Freeman-Sheldon syndrome; Craniocarpotarsal dysplasia; Craniocarpotarsal dystrophy; Distal arthrogryposis type 2A; Freeman-Burian syndrome; Whistling face syndrome (ORPHA:2053)
Association type: UNKNOWN
Gene: NALCN
Disease:  (ORPHA:700336)
Association type: UNKNOWN
Gene: NALCN
Disease: Congenital limbs-face contractures-hypotonia-developmental delay syndrome; CLIFAHDD syndrome (ORPHA:562528)
Association type: UNKNOWN
Gene: NALCN
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: NALCN
Disease: Distal arthrogryposis type 1; DA1; Digitotalar dysmorphism (ORPHA:1146)
Association type: UNKNOWN
Gene: GSTZ1
Disease: MALEYLACETOACETATE ISOMERASE DEFICIENCY (OMIM:617596)
Association type: MENDELIAN
Gene: SLC30A9
Disease: BIRK-LANDAU-PEREZ SYNDROME (OMIM:617595)
Association type: MENDELIAN
Gene: SLC30A9
Disease: Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome; Cerebrorenal syndrome, Perez type (ORPHA:505242)
Association type: UNKNOWN
Gene: SLC6A17
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 (OMIM:616269)
Association type: MENDELIAN
Gene: SLC6A17
Disease: Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome (ORPHA:457212)
Association type: UNKNOWN
Gene: PIGP
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 55 (OMIM:617599)
Association type: MENDELIAN
Gene: PIGP
Disease: Early infantile epileptic encephalopathy; EIEE; Early infantile epileptic encephalopathy with suppression-bursts; Ohtahara syndrome (ORPHA:1934)
Association type: UNKNOWN
Gene: KAT6A
Disease: ARBOLEDA-THAM SYNDROME (OMIM:616268)
Association type: MENDELIAN
Gene: KAT6A
Disease: KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome; Arboleda-Tham syndrome; KAT6A syndrome (ORPHA:457193)
Association type: UNKNOWN
Gene: KAT6A
Disease: Acute myeloid leukemia with t(8;16)(p11;p13) translocation; AML with t(8;16)(p11;p13) translocation (ORPHA:370026)
Association type: UNKNOWN
Gene: SLC5A5
Disease: THYROID DYSHORMONOGENESIS 1 (OMIM:274400)
Association type: MENDELIAN
Gene: SLC5A5
Disease: Familial thyroid dyshormonogenesis; Thyroid dyshormonogenesis (ORPHA:95716)
Association type: UNKNOWN
Gene: ALX3
Disease: FRONTONASAL DYSPLASIA 1 (OMIM:136760)
Association type: MENDELIAN
Gene: ALX3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALX3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALX3
Disease: Frontorhiny; ALX3-related frontonasal dysplasia; Frontonasal dysplasia type 1; Isolated median cleft face syndrome (ORPHA:391474)
Association type: UNKNOWN
Gene: AMBN
Disease: AMELOGENESIS IMPERFECTA, TYPE IF (OMIM:616270)
Association type: MENDELIAN
Gene: AMBN
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: AMBN
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: AMBN
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: DLX5
Disease: SPLIT-HAND/FOOT MALFORMATION 1 WITH SENSORINEURAL HEARING LOSS, AUTOSOMAL RECESSIVE (OMIM:220600)
Association type: MENDELIAN
Gene: DLX5
Disease: SPLIT-HAND/FOOT MALFORMATION 1 (OMIM:183600)
Association type: MENDELIAN
Gene: DLX5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DLX5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DLX5
Disease: Isolated split hand-split foot malformation; Ectrodactyly; SHFM; Split hand foot malformation (ORPHA:2440)
Association type: UNKNOWN
Gene: DLX5
Disease: Split hand-split foot-deafness syndrome; Split hand-split foot-hearing loss syndrome (ORPHA:71271)
Association type: UNKNOWN
Gene: CLPB
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VII (OMIM:616271)
Association type: MENDELIAN
Gene: CLPB
Disease: 3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA (OMIM:619835)
Association type: MENDELIAN
Gene: CLPB
Disease: NEUTROPENIA, SEVERE CONGENITAL, 9, AUTOSOMAL DOMINANT (OMIM:619813)
Association type: MENDELIAN
Gene: CLPB
Disease: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; 3-methylglutaconic aciduria type 7; MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome; MGA7 (ORPHA:445038)
Association type: UNKNOWN
Gene: CLPB
Disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Association type: UNKNOWN
Gene: ABCD3
Disease: BILE ACID SYNTHESIS DEFECT, CONGENITAL, 5 (OMIM:616278)
Association type: MENDELIAN
Gene: ABCD3
Disease: Oculopharyngodistal myopathy; OPDM; Oculopharyngeal distal myopathy (ORPHA:98897)
Association type: UNKNOWN
Gene: ECHS1
Disease: MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY (OMIM:616277)
Association type: MENDELIAN
Gene: ECHS1
Disease: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency; Crotonase deficiency; ECHS1D (ORPHA:653880)
Association type: UNKNOWN
Gene: COQ4
Disease: COENZYME Q10 DEFICIENCY, PRIMARY, 7 (OMIM:616276)
Association type: MENDELIAN