TaoMedAI/RareMedData huggingface dataset:
Gene: CD164
Disease: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA; Autosomal dominant isolated neurosensory deafness type DFNA; Autosomal dominant isolated neurosensory hearing loss type DFNA; Autosomal dominant isolated sensorineural deafness type DFNA; Autosomal dominant isolated sensorineural hearing loss type DFNA; Autosomal dominant non-syndromic neurosensory deafness type DFNA; Autosomal dominant non-syndromic neurosensory hearing loss type DFNA; Autosomal dominant non-syndromic sensorineural hearing loss type DFNA (ORPHA:90635)
Association type: UNKNOWN
Gene: HEXB
Disease: SANDHOFF DISEASE (OMIM:268800)
Association type: MENDELIAN
Gene: HEXB
Disease: Sandhoff disease, juvenile form; Beta-hexosaminidase subunit beta deficiency, juvenile form; GM2 gangliosidosis, Sandhoff variant, juvenile form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form (ORPHA:309162)
Association type: UNKNOWN
Gene: HEXB
Disease: Sandhoff disease, adult form; Beta-hexosaminidase subunit beta deficiency, adult form; GM2 gangliosidosis, Sandhoff variant, adult form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form (ORPHA:309169)
Association type: UNKNOWN
Gene: HEXB
Disease: Sandhoff disease, infantile form; Beta-hexosaminidase subunit beta deficiency, infantile form; GM2 gangliosidosis, Sandhoff variant, infantile form; GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form (ORPHA:309155)
Association type: UNKNOWN
Gene: BCO1
Disease: HYPERCAROTENEMIA AND VITAMIN A DEFICIENCY, AUTOSOMAL DOMINANT (OMIM:115300)
Association type: MENDELIAN
Gene: BCO1
Disease: Hereditary hypercarotenemia and vitamin A deficiency (ORPHA:199285)
Association type: UNKNOWN
Gene: RERE
Disease: NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART (OMIM:616975)
Association type: MENDELIAN
Gene: RERE
Disease: RERE-related neurodevelopmental syndrome (ORPHA:494344)
Association type: UNKNOWN
Gene: RERE
Disease: 1p36 deletion syndrome; Del(1)(p36); Deletion 1p36; Deletion 1pter; Monosomy 1p36; Monosomy 1pter; Subtelomeric 1p36 deletion (ORPHA:1606)
Association type: UNKNOWN
Gene: COASY
Disease: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 6 (OMIM:615643)
Association type: MENDELIAN
Gene: COASY
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 12 (OMIM:618266)
Association type: MENDELIAN
Gene: COASY
Disease: COASY protein-associated neurodegeneration; CoPAN; NBIA6; Neurodegeneration with brain iron accumulation due to COASY mutation (ORPHA:397725)
Association type: UNKNOWN
Gene: TRMT10C
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30 (OMIM:616974)
Association type: MENDELIAN
Gene: TRMT10C
Disease: Combined oxidative phosphorylation defect type 30; COXPD30 (ORPHA:478042)
Association type: UNKNOWN
Gene: HIVEP2
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 43 (OMIM:616977)
Association type: MENDELIAN
Gene: HIVEP2
Disease: Autosomal dominant non-syndromic intellectual disability (ORPHA:178469)
Association type: UNKNOWN
Gene: FKBP5
Disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Association type: POLYGENIC
Gene: TPH2
Disease: MAJOR DEPRESSIVE DISORDER (OMIM:608516)
Association type: POLYGENIC
Gene: TPH2
Disease: ATTENTION DEFICIT-HYPERACTIVITY DISORDER, SUSCEPTIBILITY TO, 7 (OMIM:613003)
Association type: POLYGENIC
Gene: FRRS1L
Disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 37 (OMIM:616981)
Association type: MENDELIAN
Gene: FRRS1L
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: FRRS1L
Disease: Developmental and epileptic encephalopathy with spike-wave activation in sleep; CSWS; CSWSS syndrome; Continuous spikes and waves during sleep; Continuous spikes and waves during slow-wave sleep; DEE-SWAS; Epileptic encephalopathy with continuous spike-and-wave during slow sleep; Epileptic encephalopathy with spike-and wave activation in sleep (ORPHA:725)
Association type: UNKNOWN
Gene: ZC4H2
Disease: WIEACKER-WOLFF SYNDROME (OMIM:314580)
Association type: MENDELIAN
Gene: ZC4H2
Disease: WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED (OMIM:301041)
Association type: MENDELIAN
Gene: ZC4H2
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ZC4H2
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ZC4H2
Disease: Wieacker-Wolff syndrome; Foot contractures-muscle atrophy-oculomotor apraxia syndrome (ORPHA:3454)
Association type: UNKNOWN
Gene: PSMC3IP
Disease: OVARIAN DYSGENESIS 3 (OMIM:614324)
Association type: MENDELIAN
Gene: PSMC3IP
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: MPV17
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 6 (HEPATOCEREBRAL TYPE) (OMIM:256810)
Association type: MENDELIAN
Gene: MPV17
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2EE (OMIM:618400)
Association type: MENDELIAN
Gene: MPV17
Disease: Navajo neurohepatopathy; Navajo neuropathy (ORPHA:255229)
Association type: UNKNOWN
Gene: BAP1
Disease: TUMOR PREDISPOSITION SYNDROME (OMIM:614327)
Association type: MENDELIAN
Gene: BAP1
Disease: MELANOMA, UVEAL, SUSCEPTIBILITY TO, 2 (OMIM:606661)
Association type: POLYGENIC
Gene: BAP1
Disease: KURY-ISIDOR SYNDROME (OMIM:619762)
Association type: MENDELIAN
Gene: BAP1
Disease: BAP1-related tumor predisposition syndrome; Tumor susceptibility linked to germline BAP1 mutations (ORPHA:289539)
Association type: UNKNOWN
Gene: BAP1
Disease: Uveal melanoma; Choroid melanoma; Choroidal and ciliary body melanomas; Melanoma of choroid; Melanoma of uvea (ORPHA:39044)
Association type: UNKNOWN
Gene: BAP1
Disease: Familial melanoma (ORPHA:618)
Association type: UNKNOWN
Gene: BAP1
Disease: Meningioma (ORPHA:2495)
Association type: UNKNOWN
Gene: BAP1
Disease: Pleural mesothelioma (ORPHA:50251)
Association type: UNKNOWN
Gene: BAP1
Disease: Non-specific syndromic intellectual disability; Complex neurodevelopmental disorder (ORPHA:528084)
Association type: UNKNOWN
Gene: ADAM17
Disease: INFLAMMATORY SKIN AND BOWEL DISEASE, NEONATAL, 1 (OMIM:614328)
Association type: MENDELIAN
Gene: ADAM17
Disease: Neonatal inflammatory skin and bowel disease (ORPHA:294023)
Association type: UNKNOWN
Gene: NRXN1
Disease: PITT-HOPKINS-LIKE SYNDROME 2 (OMIM:614325)
Association type: MENDELIAN
Gene: NRXN1
Disease: CHROMOSOME 2p16.3 DELETION SYNDROME (OMIM:614332)
Association type: POLYGENIC
Gene: NRXN1
Disease: NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance (ORPHA:600663)
Association type: UNKNOWN
Gene: CTLA4
Disease: HASHIMOTO THYROIDITIS (OMIM:140300)
Association type: POLYGENIC
Gene: CTLA4
Disease: CELIAC DISEASE, SUSCEPTIBILITY TO, 3 (OMIM:609755)
Association type: POLYGENIC
Gene: CTLA4
Disease: SYSTEMIC LUPUS ERYTHEMATOSUS (OMIM:152700)
Association type: POLYGENIC
Gene: CTLA4
Disease: TYPE 1 DIABETES MELLITUS 12 (OMIM:601388)
Association type: POLYGENIC
Gene: CTLA4
Disease: AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V (OMIM:616100)
Association type: MENDELIAN
Gene: CTLA4
Disease: Sézary syndrome; Sézary lymphoma (ORPHA:3162)
Association type: UNKNOWN
Gene: CTLA4
Disease: Classic mycosis fungoides; Mycosis fungoides, Alibert-Bazin type (ORPHA:2584)
Association type: UNKNOWN
Gene: CTLA4
Disease: Granulomatosis with polyangiitis; GPA (ORPHA:900)
Association type: UNKNOWN
Gene: CTLA4
Disease: Adult-onset myasthenia gravis; Adult-onset acquired myasthenia; Adult-onset autoimmune myasthenia gravis (ORPHA:391490)
Association type: UNKNOWN
Gene: CTLA4
Disease: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency; ALPS due to CTLA4 haploinsuffiency; CHAI; CTLA-4 haploinsufficiency with autoimmune infiltration disease (ORPHA:436159)
Association type: UNKNOWN
Gene: CTLA4
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: TGIF1
Disease: HOLOPROSENCEPHALY 4 (OMIM:142946)
Association type: MENDELIAN
Gene: TGIF1
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: TGIF1
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: TGIF1
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: TGIF1
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: TGIF1
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: TGIF1
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: IVD
Disease: ISOVALERIC ACIDEMIA (OMIM:243500)
Association type: MENDELIAN
Gene: IVD
Disease: Isovaleric acidemia; Isovaleric acid CoA dehydrogenase deficiency (ORPHA:33)
Association type: UNKNOWN
Gene: MYD88
Disease: MACROGLOBULINEMIA, WALDENSTROM, SUSCEPTIBILITY TO, 1 (OMIM:153600)
Association type: MENDELIAN
Gene: MYD88
Disease: IMMUNODEFICIENCY 68 (OMIM:612260)
Association type: MENDELIAN
Gene: MYD88
Disease: Waldenström macroglobulinemia (ORPHA:33226)
Association type: UNKNOWN
Gene: MYD88
Disease: Transient predisposition to invasive pyogenic bacterial infection (ORPHA:70592)
Association type: UNKNOWN
Gene: KRT16
Disease: PALMOPLANTAR KERATODERMA, NONEPIDERMOLYTIC, FOCAL 1 (OMIM:613000)
Association type: MENDELIAN
Gene: KRT16
Disease: PACHYONYCHIA CONGENITA 1 (OMIM:167200)
Association type: MENDELIAN
Gene: KRT16
Disease: Pachyonychia congenita; PC (ORPHA:2309)
Association type: UNKNOWN
Gene: KRT16
Disease: Isolated focal non-epidermolytic palmoplantar keratoderma (ORPHA:448264)
Association type: UNKNOWN
Gene: KRT16
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: PDE6D
Disease: JOUBERT SYNDROME 22 (OMIM:615665)
Association type: MENDELIAN
Gene: PDE6D
Disease: Orofaciodigital syndrome type 6; Joubert syndrome with oral-facial-digital syndrome; Joubert syndrome with orofaciodigital defect; OFD6; Oral-facial-digital syndrome type 6; Polydactyly-cleft lip/palate-psychomotor retardation syndrome; Váradi syndrome; Váradi-Papp syndrome (ORPHA:2754)
Association type: UNKNOWN
Gene: PDE6D
Disease: Joubert syndrome; CPD IV; Cerebelloparenchymal disorder IV; Classic Joubert syndrome; Joubert syndrome type A; Joubert-Boltshauser syndrome; Pure Joubert syndrome (ORPHA:475)
Association type: UNKNOWN
Gene: MYBPC1
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 1B (OMIM:614335)
Association type: MENDELIAN
Gene: MYBPC1
Disease: MYOPATHY, CONGENITAL, WITH TREMOR (OMIM:618524)
Association type: MENDELIAN
Gene: MYBPC1
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 4 (OMIM:614915)
Association type: MENDELIAN
Gene: MYBPC1
Disease: MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome; MYBPC1-related autosomal recessive non-lethal AMC syndrome (ORPHA:498693)
Association type: UNKNOWN
Gene: MYBPC1
Disease: Lethal congenital contracture syndrome type 3; LCCS3 (ORPHA:137783)
Association type: UNKNOWN
Gene: MYBPC1
Disease: Distal arthrogryposis type 1; DA1; Digitotalar dysmorphism (ORPHA:1146)
Association type: UNKNOWN
Gene: TBC1D20
Disease: WARBURG MICRO SYNDROME 4 (OMIM:615663)
Association type: MENDELIAN
Gene: TBC1D20
Disease: Micro syndrome; WARBM; Warburg micro syndrome (ORPHA:2510)
Association type: UNKNOWN
Gene: RAB5IF
Disease: CRANIOFACIAL DYSMORPHISM, SKELETAL ANOMALIES, AND IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME 2 (OMIM:616994)
Association type: MENDELIAN
Gene: PNLIP
Disease: PANCREATIC LIPASE DEFICIENCY (OMIM:614338)
Association type: MENDELIAN
Gene: NTRK1
Disease: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS (OMIM:256800)
Association type: MENDELIAN
Gene: NTRK1
Disease: THYROID CARCINOMA, FAMILIAL MEDULLARY (OMIM:155240)
Association type: MENDELIAN
Gene: NTRK1
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: NTRK1
Disease: Familial medullary thyroid carcinoma; Familial MTC (ORPHA:99361)
Association type: UNKNOWN
Gene: NTRK1
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: NTRK1
Disease: Hereditary sensory and autonomic neuropathy type 4; CIPA; Congenital insensitivity to pain with anhidrosis; HSAN4; Hereditary sensory and autonomic neuropathy type IV (ORPHA:642)
Association type: UNKNOWN
Gene: TRIOBP
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 28 (OMIM:609823)
Association type: MENDELIAN
Gene: TRIOBP
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: MICU1
Disease: MYOPATHY WITH EXTRAPYRAMIDAL SIGNS (OMIM:615673)
Association type: MENDELIAN
Gene: MICU1
Disease: Proximal myopathy with extrapyramidal signs (ORPHA:401768)
Association type: UNKNOWN
Gene: ITK
Disease: LYMPHOPROLIFERATIVE SYNDROME 1 (OMIM:613011)
Association type: MENDELIAN
Gene: ITK
Disease: Combined immunodeficiency due to ITK deficiency; Autosomal recessive lymphoproliferative disease due to ITK deficiency; ITK deficiency (ORPHA:538963)
Association type: UNKNOWN
Gene: LINS1
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 27 (OMIM:614340)
Association type: MENDELIAN
Gene: LINS1
Disease: Autosomal recessive non-syndromic intellectual disability; AR-NSID; NS-ARID (ORPHA:88616)
Association type: UNKNOWN
Gene: PHOX2B
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 2 (OMIM:613013)
Association type: MENDELIAN
Gene: PHOX2B
Disease: CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL (OMIM:209880)
Association type: MENDELIAN
Gene: PHOX2B
Disease: Haddad syndrome; Congenital central alveolar hypoventilation-Hirschsprung disease syndrome; Ondine-Hirschsprung disease; Ondine-Hirschsprung syndrome (ORPHA:99803)
Association type: UNKNOWN
Gene: PHOX2B
Disease: Congenital central hypoventilation syndrome; CCHS; Congenital central alveolar hypoventilation syndrome; Ondine curse; Ondine syndrome (ORPHA:661)
Association type: UNKNOWN
Gene: PHOX2B
Disease: Neuroblastoma (ORPHA:635)
Association type: UNKNOWN
Gene: PHOX2B
Disease: Hirschsprung disease-ganglioneuroblastoma syndrome (ORPHA:2151)
Association type: UNKNOWN
Gene: CHAT
Disease: MYASTHENIC SYNDROME, CONGENITAL, 6, PRESYNAPTIC (OMIM:254210)
Association type: MENDELIAN
Gene: CHAT
Disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Association type: UNKNOWN
Gene: ALK
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 3 (OMIM:613014)
Association type: POLYGENIC
Gene: ALK
Disease: Inflammatory myofibroblastic tumor (ORPHA:178342)
Association type: UNKNOWN
Gene: ALK
Disease: Differentiated thyroid carcinoma; Papillary or follicular thyroid carcinoma; Well-differentiated thyroid carcinoma (ORPHA:146)
Association type: UNKNOWN
Gene: ALK
Disease: Large/giant congenital melanocytic nevus; LGCMN; Large/giant CMN syndrome; Large/giant congenital pigmented nevus (ORPHA:626)
Association type: UNKNOWN
Gene: ALK
Disease: Neuroblastoma (ORPHA:635)
Association type: UNKNOWN
Gene: ALK
Disease: ALK-positive large B-cell lymphoma; ALK+ LBCL; ALK+ large B-cell lymphoma (ORPHA:364043)
Association type: UNKNOWN
Gene: ALK
Disease: ALK-positive anaplastic large cell lymphoma; ALK+ ALCL; ALK+ anaplastic large cell lymphoma (ORPHA:300895)
Association type: UNKNOWN
Gene: FAM83H
Disease: AMELOGENESIS IMPERFECTA, TYPE IIIA (OMIM:130900)
Association type: MENDELIAN
Gene: FAM83H
Disease: Hypocalcified amelogenesis imperfecta; Amelogenesis imperfecta type 3 (ORPHA:100032)
Association type: UNKNOWN
Gene: P2RY12
Disease: BLEEDING DISORDER, PLATELET-TYPE, 8 (OMIM:609821)
Association type: MENDELIAN
Gene: P2RY12
Disease: Bleeding disorder due to P2Y12 defect; Bleeding disorder due to ADP platelet receptor P2Y12 defect (ORPHA:36355)
Association type: UNKNOWN
Gene: LFNG
Disease: SPONDYLOCOSTAL DYSOSTOSIS 3, AUTOSOMAL RECESSIVE (OMIM:609813)
Association type: MENDELIAN
Gene: LFNG
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: LFNG
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: LFNG
Disease: Autosomal recessive spondylocostal dysostosis; Jarcho-Levin syndrome (ORPHA:2311)
Association type: UNKNOWN
Gene: CFH
Disease: COMPLEMENT FACTOR H DEFICIENCY (OMIM:609814)
Association type: MENDELIAN
Gene: CFH
Disease: MACULAR DEGENERATION, AGE-RELATED, 4 (OMIM:610698)
Association type: POLYGENIC
Gene: CFH
Disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 1 (OMIM:235400)
Association type: POLYGENIC
Gene: CFH
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: CFH
Disease: BASAL LAMINAR DRUSEN (OMIM:126700)
Association type: MENDELIAN
Gene: CFH
Disease: Immunoglobulin-mediated membranoproliferative glomerulonephritis; Ig-mediated MPGN; Ig-mediated membranoproliferative glomerulonephritis; Immunoglobulin-mediated MPGN (ORPHA:329903)
Association type: UNKNOWN
Gene: CFH
Disease: De novo thrombotic microangiopathy after kidney transplantation (ORPHA:244275)
Association type: UNKNOWN
Gene: CFH
Disease: HELLP syndrome; Hemolysis, elevated liver enzymes, low platelets in pregnancy; Hemolysis-elevated liver enzymes-low platelets syndrome (ORPHA:244242)
Association type: UNKNOWN
Gene: CFH
Disease: Familial drusen; DHRD; Dominant drusen; Dominant radial drusen; Doyne honeycomb retinal dystrophy; Malattia leventinese (ORPHA:75376)
Association type: UNKNOWN
Gene: CFH
Disease: Atypical hemolytic uremic syndrome with complement gene abnormality; Atypical HUS with complement gene abnormality; aHUS with complement gene abnormality (ORPHA:544472)
Association type: UNKNOWN
Gene: CFH
Disease: Immunodeficiency with factor H anomaly (ORPHA:200421)
Association type: UNKNOWN
Gene: CFH
Disease: Dense deposit disease; Membranoproliferative glomerulonephritis type 2 (ORPHA:93571)
Association type: UNKNOWN
Gene: CEL
Disease: MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 8, WITH EXOCRINE DYSFUNCTION (OMIM:609812)
Association type: MENDELIAN
Gene: CEL
Disease: MODY; Maturity-onset diabetes of the young (ORPHA:552)
Association type: UNKNOWN
Gene: ENTPD1
Disease: SPASTIC PARAPLEGIA 64, AUTOSOMAL RECESSIVE (OMIM:615683)
Association type: MENDELIAN
Gene: ENTPD1
Disease: Autosomal recessive spastic paraplegia type 64; SPG64 (ORPHA:401810)
Association type: UNKNOWN
Gene: ERLIN1
Disease: SPASTIC PARAPLEGIA 62, AUTOSOMAL RECESSIVE (OMIM:615681)
Association type: MENDELIAN
Gene: ERLIN1
Disease: Autosomal recessive spastic paraplegia type 62; SPG62 (ORPHA:401785)
Association type: UNKNOWN
Gene: SCNN1A
Disease: BRONCHIECTASIS WITH OR WITHOUT ELEVATED SWEAT CHLORIDE 2 (OMIM:613021)
Association type: MENDELIAN
Gene: SCNN1A
Disease: LIDDLE SYNDROME 3 (OMIM:618126)
Association type: MENDELIAN
Gene: SCNN1A
Disease: PSEUDOHYPOALDOSTERONISM, TYPE I, AUTOSOMAL RECESSIVE (OMIM:264350)
Association type: MENDELIAN
Gene: SCNN1A
Disease: Generalized pseudohypoaldosteronism type 1; Autosomal recessive PHA1; Autosomal recessive pseudohypoaldosteronism type 1; Generalized PHA1 (ORPHA:171876)
Association type: UNKNOWN
Gene: SCNN1A
Disease: Idiopathic bronchiectasis (ORPHA:60033)
Association type: UNKNOWN
Gene: SCNN1A
Disease: Brugada syndrome; Idiopathic ventricular fibrillation, Brugada type (ORPHA:130)
Association type: UNKNOWN
Gene: SCNN1A
Disease: Liddle syndrome; Pseudoaldosteronism (ORPHA:526)
Association type: UNKNOWN
Gene: ADA2
Disease: VASCULITIS, AUTOINFLAMMATION, IMMUNODEFICIENCY, AND HEMATOLOGIC DEFECTS SYNDROME (OMIM:615688)
Association type: MENDELIAN
Gene: ADA2
Disease: SNEDDON SYNDROME (OMIM:182410)
Association type: MENDELIAN
Gene: ADA2
Disease: Diamond-Blackfan anemia; Congenital PRCA; Congenital pure red cell aplasia; Diamond-Blackfan anemia syndrome (ORPHA:124)
Association type: UNKNOWN
Gene: ADA2
Disease: Sneddon syndrome; Ehrmann-Sneddon syndrome; Livedo racemosa-cerebrovascular accident syndrome; Livedo reticularis-cerebrovascular accident syndrome (ORPHA:820)
Association type: UNKNOWN
Gene: ADA2
Disease: Adenosine deaminase 2 deficiency; DADA2; Deficiency of adenosine deaminase 2; Vasculitis due to ADA2 deficiency; Vasculitis due to DADA2 (ORPHA:404553)
Association type: UNKNOWN
Gene: ARL6IP1
Disease: SPASTIC PARAPLEGIA 61, AUTOSOMAL RECESSIVE (OMIM:615685)
Association type: MENDELIAN
Gene: ARL6IP1
Disease: Autosomal recessive spastic paraplegia type 61; SPG61 (ORPHA:401780)
Association type: UNKNOWN
Gene: AMPD2
Disease: SPASTIC PARAPLEGIA 63, AUTOSOMAL RECESSIVE (OMIM:615686)
Association type: MENDELIAN
Gene: AMPD2
Disease: PONTOCEREBELLAR HYPOPLASIA, TYPE 9 (OMIM:615809)
Association type: MENDELIAN
Gene: AMPD2
Disease: Autosomal recessive spastic paraplegia type 63; SPG63 (ORPHA:401805)
Association type: UNKNOWN
Gene: AMPD2
Disease: Pontocerebellar hypoplasia type 9; PCH9 (ORPHA:369920)
Association type: UNKNOWN
Gene: PHKG2
Disease: GLYCOGEN STORAGE DISEASE IXc (OMIM:613027)
Association type: MENDELIAN
Gene: PHKG2
Disease: Glycogen storage disease due to liver phosphorylase kinase deficiency; GSD due to liver phosphorylase kinase deficiency; GSD type 9A; GSD type 9C; GSD type IXa; GSD type IXc; Glycogen storage disease type 9A; Glycogen storage disease type 9C; Glycogen storage disease type IXa; Glycogen storage disease type IXc; Glycogenosis due to liver phosphorylase kinase deficiency; Glycogenosis type 9A; Glycogenosis type 9C; Glycogenosis type IXa; Glycogenosis type IXc; XLG (ORPHA:264580)
Association type: UNKNOWN
Gene: ELOVL4
Disease: SPINOCEREBELLAR ATAXIA 34 (OMIM:133190)
Association type: MENDELIAN
Gene: ELOVL4
Disease: STARGARDT DISEASE 3 (OMIM:600110)
Association type: MENDELIAN
Gene: ELOVL4
Disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Association type: MENDELIAN
Gene: ELOVL4
Disease: ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION (OMIM:614457)
Association type: MENDELIAN
Gene: ELOVL4
Disease: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome; Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome; ELOVL4-related neuro ichthyosis (ORPHA:352333)
Association type: UNKNOWN
Gene: ELOVL4
Disease: Stargardt disease; Fundus flavimaculatus; Stargardt 1 (ORPHA:827)
Association type: UNKNOWN
Gene: ELOVL4
Disease: Spinocerebellar ataxia type 34; Erythrokeratodermia with ataxia; SCA34; Spinocerebellar ataxia and erythrokeratodermia (ORPHA:1955)
Association type: UNKNOWN
Gene: LITAF
Disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1C (OMIM:601098)
Association type: MENDELIAN
Gene: LITAF
Disease: Charcot-Marie-Tooth disease type 1C; CMT1C (ORPHA:101083)
Association type: UNKNOWN
Gene: POLA1
Disease: PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED (OMIM:301220)
Association type: MENDELIAN
Gene: POLA1
Disease: VAN ESCH-O'DRISCOLL SYNDROME (OMIM:301030)
Association type: MENDELIAN
Gene: POLA1
Disease: X-linked reticulate pigmentary disorder; Familial cutaneous amyloidosis; PDR; Partington disease; X-linked cutaneous amyloidosis; XLPDR (ORPHA:85453)
Association type: UNKNOWN
Gene: POLA1
Disease: X-linked intellectual disability, Van Esch type (ORPHA:163976)
Association type: UNKNOWN
Gene: CCDC26
Disease: GLIOMA SUSCEPTIBILITY 7 (OMIM:613032)
Association type: POLYGENIC
Gene: AK2
Disease: RETICULAR DYSGENESIS (OMIM:267500)
Association type: MENDELIAN