TaoMedAI/RareMedData huggingface dataset:
Gene: PKD1L1
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: PKD1L1
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: RBFOX2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CFC1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CFC1
Disease: HETEROTAXY, VISCERAL, 2, AUTOSOMAL (OMIM:605376)
Association type: MENDELIAN
Gene: CFC1
Disease: Congenitally uncorrected transposition of the great arteries with coarctation; Congenitally uncorrected transposition of the great vessels with coarctation; TGA with coarctation (ORPHA:99042)
Association type: UNKNOWN
Gene: CFC1
Disease: Biliary atresia with splenic malformation syndrome; BASM syndrome (ORPHA:244283)
Association type: UNKNOWN
Gene: CFC1
Disease: Congenitally uncorrected transposition of the great arteries with cardiac malformation; Congenitally uncorrected transposition of the great vessels with cardiac malformation; TGA with cardiac malformation (ORPHA:216729)
Association type: UNKNOWN
Gene: CFC1
Disease: Isolated congenitally uncorrected transposition of the great arteries; Isolated congenitally uncorrected transposition of the great vessels (ORPHA:216718)
Association type: UNKNOWN
Gene: CFC1
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: LMCD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FOXH1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FOXH1
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: FOXH1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: FOXH1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: FOXH1
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: FOXH1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: FOXH1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: MCTP2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: MCTP2
Disease: Distal deletion 15q syndrome; 15q26 deletion syndrome; Distal monosomy 15q; Monosomy 15q26; Telomeric 15q deletion syndrome (ORPHA:1596)
Association type: UNKNOWN
Gene: ACVR2B
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ACVR2B
Disease: HETEROTAXY, VISCERAL, 4, AUTOSOMAL (OMIM:613751)
Association type: MENDELIAN
Gene: ACVR2B
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: TMEM260
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TMEM260
Disease: STRUCTURAL HEART DEFECTS AND RENAL ANOMALIES SYNDROME (OMIM:617478)
Association type: MENDELIAN
Gene: TMEM260
Disease: Structural heart defects-renal anomalies syndrome; SHDRA syndrome; Severe congenital heart defects-renal anomalies syndome (ORPHA:689822)
Association type: UNKNOWN
Gene: TNS1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: LEFTY2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: LEFTY2
Disease: Situs ambiguus; Incomplete situs inversus; Partial situs inversus; Situs ambiguous (ORPHA:157769)
Association type: UNKNOWN
Gene: CITED2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CITED2
Disease: ATRIAL SEPTAL DEFECT 8 (OMIM:614433)
Association type: MENDELIAN
Gene: CITED2
Disease: VENTRICULAR SEPTAL DEFECT 2 (OMIM:614431)
Association type: MENDELIAN
Gene: CITED2
Disease: Situs inversus totalis; Complete situs inversus; Complete situs inversus viscerum; Situs inversus (ORPHA:101063)
Association type: UNKNOWN
Gene: CITED2
Disease: Atrial septal defect, sinus venosus type; ASD, sinus venosus type (ORPHA:99105)
Association type: UNKNOWN
Gene: CITED2
Disease: Atrial septal defect, ostium secundum type; ASD, ostium secundum type (ORPHA:99103)
Association type: UNKNOWN
Gene: CITED2
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: KMT2A
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: KMT2A
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KMT2A
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KMT2A
Disease: WIEDEMANN-STEINER SYNDROME (OMIM:605130)
Association type: MENDELIAN
Gene: KMT2A
Disease: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3); B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged; B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged (ORPHA:585918)
Association type: UNKNOWN
Gene: KMT2A
Disease: Wiedemann-Steiner syndrome; Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome (ORPHA:319182)
Association type: UNKNOWN
Gene: KMT2A
Disease: Acute undifferentiated leukemia; Acute myeloid leukemia, minimal differentiation, FAB M0 (ORPHA:98835)
Association type: UNKNOWN
Gene: KMT2A
Disease: Acute myeloid leukemia with 11q23 abnormalities; AML with 11q23 abnormalities (ORPHA:98831)
Association type: UNKNOWN
Gene: KMT2A
Disease: Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2); MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1 (ORPHA:589534)
Association type: UNKNOWN
Gene: KMT2A
Disease: Mixed phenotype acute leukemia with t(v;11q23.3); MPAL with t(v;11q23.3); KMT2A rearranged; MPAL with t(v;11q23.3); MLL rearranged (ORPHA:589595)
Association type: UNKNOWN
Gene: KMT2A
Disease: Acute myeloid leukemia with t(9;11)(p22;q23); AML with t(9;11)(p22;q23) (ORPHA:402017)
Association type: UNKNOWN
Gene: SHROOM3
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ROBO4
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ROBO4
Disease: AORTIC VALVE DISEASE 3 (OMIM:618496)
Association type: MENDELIAN
Gene: SMAD6
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: SMAD6
Disease: CRANIOSYNOSTOSIS 7 (OMIM:617439)
Association type: POLYGENIC
Gene: SMAD6
Disease: RADIOULNAR SYNOSTOSIS, NONSYNDROMIC, SUSCEPTIBILITY TO (OMIM:179300)
Association type: POLYGENIC
Gene: SMAD6
Disease: AORTIC VALVE DISEASE 2 (OMIM:614823)
Association type: MENDELIAN
Gene: SMAD6
Disease: Familial bicuspid aortic valve; Familial BAV (ORPHA:402075)
Association type: UNKNOWN
Gene: HAND2
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: HAND2
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: FOXJ1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: FOXJ1
Disease: CILIARY DYSKINESIA, PRIMARY, 43 (OMIM:618699)
Association type: MENDELIAN
Gene: FOXJ1
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ANKRD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: ANKRD1
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: GDF1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GDF1
Disease: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 6 (OMIM:613854)
Association type: MENDELIAN
Gene: GDF1
Disease: RIGHT ATRIAL ISOMERISM (OMIM:208530)
Association type: MENDELIAN
Gene: GDF1
Disease: Tetralogy of Fallot (ORPHA:3303)
Association type: UNKNOWN
Gene: GDF1
Disease: Right sided atrial isomerism; Isomerism of right atrial appendage; Ivemark syndrome; RAI (ORPHA:97548)
Association type: UNKNOWN
Gene: GDF1
Disease: Isolated congenitally uncorrected transposition of the great arteries; Isolated congenitally uncorrected transposition of the great vessels (ORPHA:216718)
Association type: UNKNOWN
Gene: MUC16
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CHD4
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CHD4
Disease: SIFRIM-HITZ-WEISS SYNDROME (OMIM:617159)
Association type: MENDELIAN
Gene: CHD4
Disease: CHD4-related neurodevelopmental disorder; CHD4-related neurodevelopmental syndrome; Sifrim-Hitz-Weiss syndrome (ORPHA:653712)
Association type: UNKNOWN
Gene: CRIPTO
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: CRIPTO
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: CRIPTO
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: CRIPTO
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: CRIPTO
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: CRIPTO
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: CRIPTO
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: PRKD1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: PRKD1
Disease: CONGENITAL HEART DEFECTS AND ECTODERMAL DYSPLASIA (OMIM:617364)
Association type: MENDELIAN
Gene: PRKD1
Disease: Malignant epithelial tumor of salivary glands (ORPHA:276145)
Association type: UNKNOWN
Gene: SRF
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: HAND1
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: GLA
Disease: FABRY DISEASE (OMIM:301500)
Association type: MENDELIAN
Gene: GLA
Disease: Fabry disease; Alpha-galactosidase A deficiency; Anderson-Fabry disease; FD (ORPHA:324)
Association type: UNKNOWN
Gene: KLHL41
Disease: NEMALINE MYOPATHY 9 (OMIM:615731)
Association type: MENDELIAN
Gene: KLHL41
Disease: Typical nemaline myopathy (ORPHA:171436)
Association type: UNKNOWN
Gene: KLHL41
Disease: Intermediate nemaline myopathy (ORPHA:171433)
Association type: UNKNOWN
Gene: KLHL41
Disease: Severe congenital nemaline myopathy (ORPHA:171430)
Association type: UNKNOWN
Gene: KLHL41
Disease: Childhood-onset nemaline myopathy; Mild nemaline myopathy (ORPHA:171439)
Association type: UNKNOWN
Gene: GLCCI1
Disease: GLUCOCORTICOID THERAPY, RESPONSE TO (OMIM:614400)
Association type: POLYGENIC
Gene: MDM2
Disease: ACCELERATED TUMOR FORMATION, SUSCEPTIBILITY TO (OMIM:614401)
Association type: POLYGENIC
Gene: MDM2
Disease: LESSEL-KUBISCH SYNDROME (OMIM:618681)
Association type: MENDELIAN
Gene: MDM2
Disease: Dedifferentiated liposarcoma; DDLS (ORPHA:99970)
Association type: UNKNOWN
Gene: MDM2
Disease: Well-differentiated liposarcoma; ALT; Atypical lipoma; Atypical lipomatous tumor; WDLS (ORPHA:99971)
Association type: UNKNOWN
Gene: MDM2
Disease: Li-Fraumeni syndrome (ORPHA:524)
Association type: UNKNOWN
Gene: KRT6C
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL OR DIFFUSE (OMIM:615735)
Association type: MENDELIAN
Gene: KRT6C
Disease: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering (ORPHA:402003)
Association type: UNKNOWN
Gene: VAX1
Disease: MICROPHTHALMIA, SYNDROMIC 11 (OMIM:614402)
Association type: MENDELIAN
Gene: GBA2
Disease: SPASTIC PARAPLEGIA 46, AUTOSOMAL RECESSIVE (OMIM:614409)
Association type: MENDELIAN
Gene: GBA2
Disease: Autosomal recessive cerebellar ataxia with late-onset spasticity; Autosomal recessive cerebellar ataxia due to GBA2 deficiency (ORPHA:352641)
Association type: UNKNOWN
Gene: GBA2
Disease: Autosomal recessive spastic paraplegia type 46; SPG46 (ORPHA:320391)
Association type: UNKNOWN
Gene: SERPING1
Disease: ANGIOEDEMA, HEREDITARY, TYPE I (OMIM:106100)
Association type: MENDELIAN
Gene: SERPING1
Disease: COMPLEMENT COMPONENT 4, PARTIAL DEFICIENCY OF (OMIM:120790)
Association type: MENDELIAN
Gene: SERPING1
Disease: Hereditary angioedema type 1; HAE 1; HAE-I; Hereditary angioneurotic edema type 1 (ORPHA:100050)
Association type: UNKNOWN
Gene: SERPING1
Disease: Hereditary angioedema type 2; HAE 2; HAE-II; Hereditary angioneurotic edema type 2 (ORPHA:100051)
Association type: UNKNOWN
Gene: MMP2
Disease: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY (OMIM:259600)
Association type: MENDELIAN
Gene: MMP2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: MMP2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: MMP2
Disease: Multicentric osteolysis-nodulosis-arthropathy spectrum; MONA spectrum; NAO syndrome; Nodulosis-arthropathy-osteolysis syndrome; Torg-Winchester syndrome (ORPHA:371428)
Association type: UNKNOWN
Gene: AQP7
Disease: GLYCEROL QUANTITATIVE TRAIT LOCUS (OMIM:614411)
Association type: MENDELIAN
Gene: CYP26B1
Disease: RADIOHUMERAL FUSIONS WITH OTHER SKELETAL AND CRANIOFACIAL ANOMALIES (OMIM:614416)
Association type: MENDELIAN
Gene: CYP26B1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CYP26B1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CYP26B1
Disease: Lethal occipital encephalocele-skeletal dysplasia syndrome (ORPHA:293925)
Association type: UNKNOWN
Gene: GABRA1
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 19 (OMIM:615744)
Association type: MENDELIAN
Gene: GABRA1
Disease: EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 13 (OMIM:611136)
Association type: POLYGENIC
Gene: GABRA1
Disease: Juvenile myoclonic epilepsy; JME; Juvenile myoclonus epilepsy (ORPHA:307)
Association type: UNKNOWN
Gene: GABRA1
Disease: Childhood absence epilepsy; Pyknolepsy (ORPHA:64280)
Association type: UNKNOWN
Gene: GABRA1
Disease: Dravet syndrome; SMEI; Severe myoclonic epilepsy of infancy; Severe myoclonus epilepsy of infancy (ORPHA:33069)
Association type: UNKNOWN
Gene: PROC
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:176860)
Association type: MENDELIAN
Gene: PROC
Disease: THROMBOPHILIA DUE TO PROTEIN C DEFICIENCY, AUTOSOMAL RECESSIVE (OMIM:612304)
Association type: MENDELIAN
Gene: PROC
Disease: Severe hereditary thrombophilia due to congenital protein C deficiency; Autosomal recessive thrombophilia due to PC deficiency; Autosomal recessive thrombophilia due to congenital protein C deficiency (ORPHA:745)
Association type: UNKNOWN
Gene: GOT1
Disease: ASPARTATE AMINOTRANSFERASE, SERUM LEVEL OF, QUANTITATIVE TRAIT LOCUS 1 (OMIM:614419)
Association type: MENDELIAN
Gene: CPA6
Disease: EPILEPSY, FAMILIAL TEMPORAL LOBE, 5 (OMIM:614417)
Association type: MENDELIAN
Gene: CPA6
Disease: FEBRILE SEIZURES, FAMILIAL, 11 (OMIM:614418)
Association type: MENDELIAN
Gene: CPA6
Disease: Genetic epilepsy with febrile seizure plus; GEFS+; Generalized epilepsy with febrile seizures-plus (ORPHA:36387)
Association type: UNKNOWN
Gene: CPA6
Disease: Benign familial mesial temporal lobe epilepsy; Benign FMTLE (ORPHA:163717)
Association type: UNKNOWN
Gene: TALDO1
Disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Association type: MENDELIAN
Gene: TALDO1
Disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Association type: UNKNOWN
Gene: SC5D
Disease: LATHOSTEROLOSIS (OMIM:607330)
Association type: MENDELIAN
Gene: SC5D
Disease: Lathosterolosis; Sterol C5-desaturase deficiency (ORPHA:46059)
Association type: UNKNOWN
Gene: DYM
Disease: SMITH-MCCORT DYSPLASIA 1 (OMIM:607326)
Association type: MENDELIAN
Gene: DYM
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: DYM
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: DYM
Disease: DYGGVE-MELCHIOR-CLAUSEN DISEASE (OMIM:223800)
Association type: MENDELIAN
Gene: DYM
Disease: Dyggve-Melchior-Clausen disease (ORPHA:239)
Association type: UNKNOWN
Gene: DYM
Disease: Smith-McCort dysplasia (ORPHA:178355)
Association type: UNKNOWN
Gene: GUCY1A1
Disease: MOYAMOYA DISEASE 6 WITH OR WITHOUT ACHALASIA (OMIM:615750)
Association type: MENDELIAN
Gene: GUCY1A1
Disease: Moyamoya disease with early-onset achalasia (ORPHA:401945)
Association type: UNKNOWN
Gene: CA5A
Disease: CARBONIC ANHYDRASE VA DEFICIENCY, HYPERAMMONEMIA DUE TO (OMIM:615751)
Association type: MENDELIAN
Gene: CA5A
Disease: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency; CA-VA deficiency (ORPHA:401948)
Association type: UNKNOWN
Gene: DNASE1L3
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS 16 (OMIM:614420)
Association type: MENDELIAN
Gene: DNASE1L3
Disease: Autosomal systemic lupus erythematosus; Autosomal SLE; Familial SLE; Familial systemic lupus erythematosus (ORPHA:300345)
Association type: UNKNOWN
Gene: DNASE1L3
Disease: Hypocomplementemic urticarial vasculitis; Anti-C1q vasculitis; Mac Duffie hypocomplementemic urticarial vasculitis; Mac Duffie syndrome; McDuffie hypocomplementemic urticarial vasculitis; McDuffie syndrome (ORPHA:36412)
Association type: UNKNOWN
Gene: DDB2
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP E (OMIM:278740)
Association type: MENDELIAN
Gene: DDB2
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: LCK
Disease: IMMUNODEFICIENCY 22 (OMIM:615758)
Association type: MENDELIAN
Gene: LCK
Disease: Severe combined immunodeficiency due to LCK deficiency; SCID due to LCK deficiency; SCID due to lymphocyte-specific protein tyrosine kinase deficiency; Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency (ORPHA:280142)
Association type: UNKNOWN
Gene: NGF
Disease: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE V (OMIM:608654)
Association type: MENDELIAN
Gene: NGF
Disease: Hereditary sensory and autonomic neuropathy type 5; CIP; Congenital insensitivity to pain and thermal analgesia; HSAN5; Hereditary sensory and autonomic neuropathy type V (ORPHA:64752)
Association type: UNKNOWN
Gene: CDC14A
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 32, WITH OR WITHOUT IMMOTILE SPERM (OMIM:608653)
Association type: MENDELIAN
Gene: CDC14A
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: MCM4
Disease: IMMUNODEFICIENCY 54 (OMIM:609981)
Association type: MENDELIAN
Gene: MCM4
Disease: Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency; Primary immunodeficiency due to MCM4 deficiency (ORPHA:75391)
Association type: UNKNOWN
Gene: MMADHC
Disease: METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE (OMIM:277410)
Association type: MENDELIAN
Gene: MMADHC
Disease:  (OMIM:620953)
Association type: MENDELIAN
Gene: MMADHC
Disease:  (OMIM:620952)
Association type: MENDELIAN
Gene: MMADHC
Disease: Methylcobalamin deficiency type cblDv1; Functional methionine synthase deficiency type cblDv1 (ORPHA:308380)
Association type: UNKNOWN
Gene: MMADHC
Disease: Vitamin B12-responsive methylmalonic acidemia, type cblDv2; Vitamin B12-responsive methylmalonic aciduria, type cblDv2 (ORPHA:308442)
Association type: UNKNOWN
Gene: MMADHC
Disease: Methylmalonic acidemia with homocystinuria, type cblD; CblD defect; Cobalamin D defect; Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD; Methylmalonic aciduria with homocystinuria, type cblD (ORPHA:79283)
Association type: UNKNOWN
Gene: SLC27A4
Disease: ICHTHYOSIS PREMATURITY SYNDROME (OMIM:608649)
Association type: MENDELIAN
Gene: SLC27A4
Disease: Ichthyosis-prematurity syndrome; Congenital ichthyosis type 4; IPS (ORPHA:88621)
Association type: UNKNOWN
Gene: HYDIN
Disease: CILIARY DYSKINESIA, PRIMARY, 5 (OMIM:608647)
Association type: MENDELIAN
Gene: HYDIN
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: VPS13D
Disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 4 (OMIM:607317)
Association type: MENDELIAN
Gene: VPS13D
Disease: Autosomal recessive cerebellar ataxia-movement disorder syndrome; SCAR4; SCASI (ORPHA:95434)
Association type: UNKNOWN
Gene: QARS1
Disease: MICROCEPHALY, PROGRESSIVE, WITH SEIZURES AND CEREBRAL AND CEREBELLAR ATROPHY (OMIM:615760)
Association type: MENDELIAN
Gene: QARS1
Disease: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome (ORPHA:423306)
Association type: UNKNOWN
Gene: QARS1
Disease: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome (ORPHA:404437)
Association type: UNKNOWN
Gene: SETD5
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 23 (OMIM:615761)
Association type: MENDELIAN
Gene: SETD5
Disease: 3p25.3 microdeletion syndrome; Del(3)p(25.3); Intellectual disability-epilepsy-stereotypic hand movement syndrome; Monosomy 3p25.3 (ORPHA:435638)
Association type: UNKNOWN
Gene: SETD5
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: STXBP2
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 5 (OMIM:613101)
Association type: MENDELIAN
Gene: STXBP2
Disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Association type: UNKNOWN
Gene: NTF4
Disease: GLAUCOMA 1, OPEN ANGLE, O (OMIM:613100)
Association type: MENDELIAN
Gene: TUBB2A
Disease: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 5 (OMIM:615763)
Association type: MENDELIAN
Gene: DSC3
Disease: HYPOTRICHOSIS AND RECURRENT SKIN VESICLES (OMIM:613102)
Association type: MENDELIAN
Gene: DSC3
Disease: Hereditary hypotrichosis with recurrent skin vesicles (ORPHA:217407)
Association type: UNKNOWN
Gene: POLH
Disease: XERODERMA PIGMENTOSUM, VARIANT TYPE (OMIM:278750)
Association type: MENDELIAN
Gene: POLH
Disease: Xeroderma pigmentosum variant; XPV (ORPHA:90342)
Association type: UNKNOWN
Gene: GFI1
Disease: NEUTROPENIA, SEVERE CONGENITAL, 2, AUTOSOMAL DOMINANT (OMIM:613107)
Association type: MENDELIAN
Gene: GFI1
Disease: NEUTROPENIA, NONIMMUNE CHRONIC IDIOPATHIC, OF ADULTS (OMIM:607847)
Association type: MENDELIAN
Gene: GFI1
Disease: Autosomal dominant severe congenital neutropenia (ORPHA:486)
Association type: UNKNOWN
Gene: IL21
Disease: IMMUNODEFICIENCY, COMMON VARIABLE, 11 (OMIM:615767)
Association type: MENDELIAN
Gene: IL21
Disease: IL21-related infantile inflammatory bowel disease; IL21-related infantile IBD (ORPHA:477661)
Association type: UNKNOWN
Gene: LRSAM1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2P (OMIM:614436)
Association type: MENDELIAN
Gene: LRSAM1
Disease: Charcot-Marie-Tooth disease type 2P; CMT2P (ORPHA:300319)
Association type: UNKNOWN
Gene: DDC
Disease: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY (OMIM:608643)
Association type: MENDELIAN
Gene: DDC
Disease: Aromatic L-amino acid decarboxylase deficiency; AADC deficiency (ORPHA:35708)
Association type: UNKNOWN
Gene: DNAH5
Disease: CILIARY DYSKINESIA, PRIMARY, 3 (OMIM:608644)
Association type: MENDELIAN
Gene: DNAH5
Disease: Primary ciliary dyskinesia; PCD (ORPHA:244)
Association type: UNKNOWN
Gene: ROBO3
Disease: GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS 1 (OMIM:607313)
Association type: MENDELIAN
Gene: ROBO3
Disease: Horizontal gaze palsy with progressive scoliosis; HGPPS; Progressive external ophthalmoplegia and scoliosis (ORPHA:2744)
Association type: UNKNOWN
Gene: HSPB1
Disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IIB (OMIM:608634)
Association type: MENDELIAN
Gene: HSPB1
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2F (OMIM:606595)
Association type: MENDELIAN
Gene: HSPB1
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2F; CMT2F (ORPHA:99940)
Association type: UNKNOWN