TaoMedAI/RareMedData huggingface dataset:
Gene: TET2
Disease: EBV-induced lymphoproliferative disease due to TET2 deficiency; Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency (ORPHA:664729)
Association type: UNKNOWN
Gene: WNT4
Disease: MULLERIAN APLASIA AND HYPERANDROGENISM (OMIM:158330)
Association type: MENDELIAN
Gene: WNT4
Disease: 46,XX SEX REVERSAL WITH DYSGENESIS OF KIDNEYS, ADRENALS, AND LUNGS (OMIM:611812)
Association type: MENDELIAN
Gene: WNT4
Disease: Mayer-Rokitansky-Küster-Hauser syndrome type 2; Atypical MRKH syndrome; MRKH syndrome type 2; MURCS association; Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome (ORPHA:2578)
Association type: UNKNOWN
Gene: WNT4
Disease: SERKAL syndrome; Sex reversion-kidneys, adrenal and lung dysgenesis syndrome (ORPHA:139466)
Association type: UNKNOWN
Gene: WNT4
Disease: Müllerian aplasia and hyperandrogenism; Müllerian duct failure and hyperandrogenism; WNT4 deficiency (ORPHA:247768)
Association type: UNKNOWN
Gene: KHDC3L
Disease: HYDATIDIFORM MOLE, RECURRENT, 2 (OMIM:614293)
Association type: MENDELIAN
Gene: KHDC3L
Disease: Partial hydatidiform mole; Incomplete hydatidiform mole; Incomplete molar pregnancy; Partial molar pregnancy (ORPHA:254693)
Association type: UNKNOWN
Gene: KHDC3L
Disease: Complete hydatidiform mole; Complete molar pregnancy (ORPHA:254688)
Association type: UNKNOWN
Gene: RAD51D
Disease: BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 4 (OMIM:614291)
Association type: POLYGENIC
Gene: RAD51D
Disease: Hereditary breast and/or ovarian cancer syndrome (ORPHA:145)
Association type: UNKNOWN
Gene: RAD51D
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: BOLA3
Disease: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 WITH HYPERGLYCINEMIA (OMIM:614299)
Association type: MENDELIAN
Gene: BOLA3
Disease: Multiple mitochondrial dysfunctions syndrome type 2; BOLA3 deficiency; MMDS2 (ORPHA:401874)
Association type: UNKNOWN
Gene: TRIM36
Disease: ANENCEPHALY (OMIM:206500)
Association type: MENDELIAN
Gene: WASHC5
Disease: SPASTIC PARAPLEGIA 8, AUTOSOMAL DOMINANT (OMIM:603563)
Association type: MENDELIAN
Gene: WASHC5
Disease: RITSCHER-SCHINZEL SYNDROME 1 (OMIM:220210)
Association type: MENDELIAN
Gene: WASHC5
Disease: Autosomal dominant spastic paraplegia type 8; SPG8 (ORPHA:100989)
Association type: UNKNOWN
Gene: WASHC5
Disease: 3C syndrome; Craniocerebellocardiac dysplasia; Ritscher-Schinzel syndrome (ORPHA:7)
Association type: UNKNOWN
Gene: ALPL
Disease: HYPOPHOSPHATASIA, ADULT (OMIM:146300)
Association type: MENDELIAN
Gene: ALPL
Disease: OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME (OMIM:259770)
Association type: MENDELIAN
Gene: ALPL
Disease: HYPOPHOSPHATASIA, INFANTILE (OMIM:241500)
Association type: MENDELIAN
Gene: ALPL
Disease: HYPOPHOSPHATASIA, CHILDHOOD (OMIM:241510)
Association type: MENDELIAN
Gene: ALPL
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: ALPL
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: ALPL
Disease: BONE FRAGILITY WITH CONTRACTURES, ARTERIAL RUPTURE, AND DEAFNESS (OMIM:612394)
Association type: MENDELIAN
Gene: ALPL
Disease: Odontohypophosphatasia (ORPHA:247685)
Association type: UNKNOWN
Gene: ALPL
Disease: Adult hypophosphatasia; Adult Rathbun disease; Adult phosphoethanolaminuria (ORPHA:247676)
Association type: UNKNOWN
Gene: ALPL
Disease: Childhood-onset hypophosphatasia; Childhood-onset Rathbun disease; Childhood-onset phosphoethanolaminuria (ORPHA:247667)
Association type: UNKNOWN
Gene: ALPL
Disease: Infantile hypophosphatasia; Infantile Rathbun disease; Infantile phosphoethanolaminuria (ORPHA:247651)
Association type: UNKNOWN
Gene: ALPL
Disease: Prenatal benign hypophosphatasia; Prenatal benign Rathbun disease; Prenatal benign phosphoethanolaminuria (ORPHA:247638)
Association type: UNKNOWN
Gene: ALPL
Disease: Perinatal lethal hypophosphatasia; Perinatal lethal Rathbun disease; Perinatal lethal phosphoethanolaminuria (ORPHA:247623)
Association type: UNKNOWN
Gene: MAFA
Disease: INSULINOMATOSIS AND DIABETES MELLITUS (OMIM:147630)
Association type: MENDELIAN
Gene: UBE3A
Disease: ANGELMAN SYNDROME (OMIM:105830)
Association type: MENDELIAN
Gene: UBE3A
Disease: 15q11q13 microduplication syndrome; 15q11q13 duplication syndrome; Dup(15)(q11q13); Trisomy 15q11q13 (ORPHA:238446)
Association type: UNKNOWN
Gene: UBE3A
Disease: Angelman syndrome due to maternal 15q11q13 deletion; Angelman syndrome due to maternal monosomy 15q11q13 (ORPHA:98794)
Association type: UNKNOWN
Gene: UBE3A
Disease: Angelman syndrome due to paternal uniparental disomy of chromosome 15; UPD(15)pat (ORPHA:98795)
Association type: UNKNOWN
Gene: UBE3A
Disease: Angelman syndrome due to a point mutation (ORPHA:411511)
Association type: UNKNOWN
Gene: UBE3A
Disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Association type: UNKNOWN
Gene: SNRPN
Disease: ANGELMAN SYNDROME (OMIM:105830)
Association type: MENDELIAN
Gene: SNRPN
Disease: AUTISM (OMIM:209850)
Association type: MENDELIAN
Gene: SNRPN
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 (ORPHA:177904)
Association type: UNKNOWN
Gene: SNRPN
Disease: Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 (ORPHA:177901)
Association type: UNKNOWN
Gene: SNRPN
Disease: Prader-Willi syndrome due to imprinting mutation (ORPHA:177910)
Association type: UNKNOWN
Gene: SNRPN
Disease: Prader-Willi syndrome due to translocation (ORPHA:177907)
Association type: UNKNOWN
Gene: SNRPN
Disease: Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15; UPD(15)mat (ORPHA:98754)
Association type: UNKNOWN
Gene: SNRPN
Disease: Angelman syndrome due to imprinting defect in 15q11-q13 (ORPHA:411515)
Association type: UNKNOWN
Gene: ENAM
Disease: AMELOGENESIS IMPERFECTA, TYPE IB (OMIM:104500)
Association type: MENDELIAN
Gene: ENAM
Disease: AMELOGENESIS IMPERFECTA, TYPE IC (OMIM:204650)
Association type: MENDELIAN
Gene: ENAM
Disease: Hypoplastic amelogenesis imperfecta; Amelogenesis imperfecta type 1 (ORPHA:100031)
Association type: UNKNOWN
Gene: FGF3
Disease: DEAFNESS, CONGENITAL, WITH INNER EAR AGENESIS, MICROTIA, AND MICRODONTIA (OMIM:610706)
Association type: MENDELIAN
Gene: FGF3
Disease: Oculootodental syndrome; OOD (ORPHA:99806)
Association type: UNKNOWN
Gene: FGF3
Disease: Otodental syndrome; Globodontia; Otodental dysplasia (ORPHA:2791)
Association type: UNKNOWN
Gene: FGF3
Disease: Deafness with labyrinthine aplasia, microtia, and microdontia; Hearing loss with labyrinthine aplasia, microtia, and microdontia; LAMM syndrome; Microdontia-type I microtia-deafness syndrome; Microdontia-type I microtia-hearing loss syndrome (ORPHA:90024)
Association type: UNKNOWN
Gene: DCLRE1C
Disease: OMENN SYNDROME (OMIM:603554)
Association type: MENDELIAN
Gene: DCLRE1C
Disease: SEVERE COMBINED IMMUNODEFICIENCY WITH SENSITIVITY TO IONIZING RADIATION (OMIM:602450)
Association type: MENDELIAN
Gene: DCLRE1C
Disease: Severe combined immunodeficiency due to DCLRE1C deficiency; SCID due to ARTEMIS deficiency; SCID due to DCLRE1C deficiency; SCID, Athabascan type; SCID, Athabaskan type; Severe combined immunodeficiency due to ARTEMIS deficiency; Severe combined immunodeficiency, Athabascan type; Severe combined immunodeficiency, Athabaskan type (ORPHA:275)
Association type: UNKNOWN
Gene: DCLRE1C
Disease: Omenn syndrome; Combined immunodeficiency with hypereosinophilia (ORPHA:39041)
Association type: UNKNOWN
Gene: STX11
Disease: HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS, FAMILIAL, 4 (OMIM:603552)
Association type: MENDELIAN
Gene: STX11
Disease: Familial hemophagocytic lymphohistiocytosis; Familial HLH (ORPHA:540)
Association type: UNKNOWN
Gene: ABCC11
Disease: APOCRINE GLAND SECRETION, VARIATION IN (OMIM:117800)
Association type: MENDELIAN
Gene: ZBTB20
Disease: PRIMROSE SYNDROME (OMIM:259050)
Association type: MENDELIAN
Gene: ZBTB20
Disease: Intellectual disability-cataracts-calcified pinnae-myopathy syndrome; Primrose syndrome (ORPHA:3042)
Association type: UNKNOWN
Gene: HOXD13
Disease: BRACHYDACTYLY-SYNDACTYLY SYNDROME (OMIM:610713)
Association type: MENDELIAN
Gene: HOXD13
Disease: SYNPOLYDACTYLY 1 (OMIM:186000)
Association type: MENDELIAN
Gene: HOXD13
Disease: BRACHYDACTYLY, TYPE E1 (OMIM:113300)
Association type: MENDELIAN
Gene: HOXD13
Disease: SYNDACTYLY, TYPE V (OMIM:186300)
Association type: MENDELIAN
Gene: HOXD13
Disease: BRACHYDACTYLY, TYPE D (OMIM:113200)
Association type: MENDELIAN
Gene: HOXD13
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: HOXD13
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: HOXD13
Disease: VACTERL/VATER association; VACTERL association; VATER association; Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association (ORPHA:887)
Association type: UNKNOWN
Gene: HOXD13
Disease: Brachydactyly type E (ORPHA:93387)
Association type: UNKNOWN
Gene: HOXD13
Disease: Syndactyly type 5; Postaxial syndactyly with metacarpal synostosis; SD5 (ORPHA:93406)
Association type: UNKNOWN
Gene: HOXD13
Disease: Brachydactyly-syndactyly, Zhao type (ORPHA:93409)
Association type: UNKNOWN
Gene: HOXD13
Disease: Zygodactyly type 3; SD1, Montagu type; SD1c; Syndactyly type 1, Montagu type; Syndactyly type 1c; Zygodactyly, Montagu type (ORPHA:295191)
Association type: UNKNOWN
Gene: HOXD13
Disease: Synpolydactyly type 1; SD2, Vordingborg type; SD2a; SPD, Vordingborg type; SPD1; Synpolydactyly, Vordingborg type (ORPHA:295195)
Association type: UNKNOWN
Gene: PNPLA2
Disease: NEUTRAL LIPID STORAGE DISEASE WITH MYOPATHY (OMIM:610717)
Association type: MENDELIAN
Gene: PNPLA2
Disease: Primary triglyceride deposit cardiomyovasculopathy; Neutral lipid storage disease with severe cardiovascular involvement; TGCV (ORPHA:565612)
Association type: UNKNOWN
Gene: PNPLA2
Disease: Neutral lipid storage disease with myopathy; Adipose triglyceride lipase deficiency; NLSDM; Neutral lipid storage disease type M; Neutral lipid storage disease with myopathy without ichthyosis (ORPHA:98908)
Association type: UNKNOWN
Gene: BCL10
Disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Association type: POLYGENIC
Gene: BCL10
Disease: MESOTHELIOMA, MALIGNANT (OMIM:156240)
Association type: POLYGENIC
Gene: BCL10
Disease: LYMPHOMA, NON-HODGKIN, FAMILIAL (OMIM:605027)
Association type: POLYGENIC
Gene: BCL10
Disease: LYMPHOMA, MUCOSA-ASSOCIATED LYMPHOID TYPE (OMIM:137245)
Association type: MENDELIAN
Gene: BCL10
Disease: IMMUNODEFICIENCY 37 (OMIM:616098)
Association type: MENDELIAN
Gene: BCL10
Disease: MALT lymphoma; Extranodal marginal zone B-cell lymphoma; MALToma; Mucosa-associated lymphatic tissue lymphoma; Mucosa-associated lymphoid tissue lymphoma (ORPHA:52417)
Association type: UNKNOWN
Gene: KIT
Disease: TESTICULAR GERM CELL TUMOR (OMIM:273300)
Association type: MENDELIAN
Gene: KIT
Disease: MASTOCYTOSIS, CUTANEOUS (OMIM:154800)
Association type: MENDELIAN
Gene: KIT
Disease: PIEBALD TRAIT (OMIM:172800)
Association type: MENDELIAN
Gene: KIT
Disease: GASTROINTESTINAL STROMAL TUMOR (OMIM:606764)
Association type: MENDELIAN
Gene: KIT
Disease: LEUKEMIA, ACUTE MYELOID (OMIM:601626)
Association type: MENDELIAN
Gene: KIT
Disease: Cutaneous mastocytoma; Cutaneous local mastocytoma; Multiple mastocytoma; Solitary mastocytoma (ORPHA:79455)
Association type: UNKNOWN
Gene: KIT
Disease: Plaque-form urticaria pigmentosa (ORPHA:158769)
Association type: UNKNOWN
Gene: KIT
Disease: Typical urticaria pigmentosa (ORPHA:158766)
Association type: UNKNOWN
Gene: KIT
Disease: Gastrointestinal stromal tumor; GIST; Gastrointestinal stromal sarcoma (ORPHA:44890)
Association type: UNKNOWN
Gene: KIT
Disease: Isolated bone marrow mastocytosis (ORPHA:158778)
Association type: UNKNOWN
Gene: KIT
Disease: Smoldering systemic mastocytosis (ORPHA:158775)
Association type: UNKNOWN
Gene: KIT
Disease: Nodular urticaria pigmentosa (ORPHA:158772)
Association type: UNKNOWN
Gene: KIT
Disease: Piebaldism (ORPHA:2884)
Association type: UNKNOWN
Gene: KIT
Disease: Systemic mastocytosis with associated hematologic neoplasm; SM-AHN; SM-AHNMD; Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease (ORPHA:98849)
Association type: UNKNOWN
Gene: KIT
Disease: Acute myeloblastic leukemia with maturation; AML M2; Acute myeloblastic leukemia M2 (ORPHA:98834)
Association type: UNKNOWN
Gene: KIT
Disease: Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22); AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) (ORPHA:98829)
Association type: UNKNOWN
Gene: KIT
Disease: Testicular seminomatous germ cell tumor; Seminoma of testis; Seminomatous germ cell tumor of testis; Testicular seminoma (ORPHA:842)
Association type: UNKNOWN
Gene: KIT
Disease: Acute myeloid leukemia with t(8;21)(q22;q22) translocation; AML with t(8;21)(q22;q22) translocation (ORPHA:102724)
Association type: UNKNOWN
Gene: KIT
Disease: Bullous diffuse cutaneous mastocytosis; Bullous DCM (ORPHA:280785)
Association type: UNKNOWN
Gene: KIT
Disease: Pseudoxanthomatous diffuse cutaneous mastocytosis; Infiltrative small vesicular DCM; Infiltrative small vesicular diffuse cutaneous mastocytosis; Pseudoxanthomatous DCM (ORPHA:280794)
Association type: UNKNOWN
Gene: KIT
Disease: Telangiectasia macularis eruptiva perstans (ORPHA:90389)
Association type: UNKNOWN
Gene: KIT
Disease: Chronic mast cell leukemia; Chronic MCL (ORPHA:566396)
Association type: UNKNOWN
Gene: KIT
Disease: Acute mast cell leukemia; Acute MCL (ORPHA:566393)
Association type: UNKNOWN
Gene: MYH8
Disease: ARTHROGRYPOSIS, DISTAL, TYPE 7 (OMIM:158300)
Association type: MENDELIAN
Gene: MYH8
Disease: CARNEY COMPLEX VARIANT (OMIM:608837)
Association type: MENDELIAN
Gene: MYH8
Disease: Trismus-pseudocamptodactyly syndrome; Distal arthrogryposis type 7; Dutch-Kentucky syndrome; Hecht syndrome; Hecht-Beals syndrome (ORPHA:3377)
Association type: UNKNOWN
Gene: MYH8
Disease: Carney complex-trismus-pseudocamptodactyly syndrome; Carney complex variant (ORPHA:319340)
Association type: UNKNOWN
Gene: KIF22
Disease: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 (OMIM:603546)
Association type: MENDELIAN
Gene: KIF22
Disease: SPONDYLOEPIPHYSEAL DYSPLASIA WITH CONGENITAL JOINT DISLOCATIONS (OMIM:143095)
Association type: MENDELIAN
Gene: KIF22
Disease: LARSEN SYNDROME (OMIM:150250)
Association type: MENDELIAN
Gene: KIF22
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: KIF22
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: KIF22
Disease: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type; SEMD-MD; SEMDJL2; Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type; Spondyloepimetaphyseal dysplasia with joint laxity type 2; Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type (ORPHA:93360)
Association type: UNKNOWN
Gene: PFKM
Disease: GLYCOGEN STORAGE DISEASE VII (OMIM:232800)
Association type: MENDELIAN
Gene: PFKM
Disease: Glycogen storage disease due to muscle phosphofructokinase deficiency; GSD due to muscle phosphofructokinase deficiency; GSD type 7; GSD type VII; Glycogen storage disease type 7; Glycogen storage disease type VII; Glycogenosis due to muscle phosphofructokinase deficiency; Glycogenosis type 7; Glycogenosis type VII; Tarui disease (ORPHA:371)
Association type: UNKNOWN
Gene: PLCE1
Disease: NEPHROTIC SYNDROME, TYPE 3 (OMIM:610725)
Association type: MENDELIAN
Gene: PLCE1
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: PKD1
Disease: POLYCYSTIC KIDNEY DISEASE 1 WITH OR WITHOUT POLYCYSTIC LIVER DISEASE (OMIM:173900)
Association type: MENDELIAN
Gene: PKD1
Disease: Autosomal dominant polycystic kidney disease; ADPKD (ORPHA:730)
Association type: UNKNOWN
Gene: PKD1
Disease: Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis; PKDTS; TSC2/PKD1 contiguous gene syndrome; Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome (ORPHA:88924)
Association type: UNKNOWN
Gene: HAX1
Disease: NEUTROPENIA, SEVERE CONGENITAL, 3, AUTOSOMAL RECESSIVE (OMIM:610738)
Association type: MENDELIAN
Gene: HAX1
Disease: Kostmann syndrome; Infantile agranulocytosis; Severe congenital neutropenia type 3 (ORPHA:99749)
Association type: UNKNOWN
Gene: SPART
Disease: SPASTIC PARAPLEGIA 20, AUTOSOMAL RECESSIVE (OMIM:275900)
Association type: MENDELIAN
Gene: SPART
Disease: Autosomal recessive spastic paraplegia type 20; Childhood-onset spastic paraparesis-distal muscle wasting syndrome; SPG20; Troyer syndrome (ORPHA:101000)
Association type: UNKNOWN
Gene: OPN1LW
Disease: COLORBLINDNESS, PARTIAL, PROTAN SERIES (OMIM:303900)
Association type: MENDELIAN
Gene: OPN1LW
Disease: BLUE CONE MONOCHROMACY (OMIM:303700)
Association type: MENDELIAN
Gene: OPN1LW
Disease: Blue cone monochromatism; Atypical X-linked achromatopsia; Blue cone monochromacy; Color blindness, blue monocone monochromatic type; S cone monochromacy; S cone monochromatism; X-linked incomplete achromatopsia (ORPHA:16)
Association type: UNKNOWN
Gene: OPN1LW
Disease: X-linked cone dysfunction syndrome with myopia; Bornholm eye disease (ORPHA:90001)
Association type: UNKNOWN
Gene: OPN1LW
Disease: Cone rod dystrophy (ORPHA:1872)
Association type: UNKNOWN
Gene: DNAJB6
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL DOMINANT 1 (OMIM:603511)
Association type: MENDELIAN
Gene: DNAJB6
Disease: DNAJB6-related limb-girdle muscular dystrophy D1; Autosomal dominant limb-girdle muscular dystrophy type 1D; DNAJB6-related LGMD D1; LGMD type 1D; LGMD1D; Limb-girdle muscular dystrophy type 1D (ORPHA:34516)
Association type: UNKNOWN
Gene: RNU4ATAC
Disease: LOWRY-WOOD SYNDROME (OMIM:226960)
Association type: MENDELIAN
Gene: RNU4ATAC
Disease: ROIFMAN SYNDROME (OMIM:616651)
Association type: MENDELIAN
Gene: RNU4ATAC
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: RNU4ATAC
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: RNU4ATAC
Disease: MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I (OMIM:210710)
Association type: MENDELIAN
Gene: RNU4ATAC
Disease: Microcephalic osteodysplastic primordial dwarfism types I and III; MOPD types I and III; Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type; Primordial microcephalic dwarfism, Crachami type; Taybi-Linder syndrome (ORPHA:2636)
Association type: UNKNOWN
Gene: RNU4ATAC
Disease: Lowry-Wood syndrome; Epiphyseal dysplasia-microcephaly-nystagmus syndrome (ORPHA:1824)
Association type: UNKNOWN
Gene: RNU4ATAC
Disease: Roifman syndrome; Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome (ORPHA:353298)
Association type: UNKNOWN
Gene: ATXN10
Disease: SPINOCEREBELLAR ATAXIA 10 (OMIM:603516)
Association type: MENDELIAN
Gene: ATXN10
Disease: Spinocerebellar ataxia type 10; SCA10 (ORPHA:98761)
Association type: UNKNOWN
Gene: CDKN1B
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE IV (OMIM:610755)
Association type: MENDELIAN
Gene: CDKN1B
Disease: Multiple endocrine neoplasia type 4; MEN4 (ORPHA:276152)
Association type: UNKNOWN
Gene: CDKN1B
Disease: Multiple endocrine neoplasia type 1; MEN1; Wermer syndrome (ORPHA:652)
Association type: UNKNOWN
Gene: ERCC2
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 2 (OMIM:610756)
Association type: MENDELIAN
Gene: ERCC2
Disease: XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D (OMIM:278730)
Association type: MENDELIAN
Gene: ERCC2
Disease: TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE (OMIM:601675)
Association type: MENDELIAN
Gene: ERCC2
Disease: COFS syndrome; Cerebrooculofacioskeletal syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Association type: UNKNOWN
Gene: ERCC2
Disease: Trichothiodystrophy (ORPHA:33364)
Association type: UNKNOWN
Gene: ERCC2
Disease: Xeroderma pigmentosum-Cockayne syndrome complex; XP/CS complex (ORPHA:220295)
Association type: UNKNOWN
Gene: ERCC2
Disease: Xeroderma pigmentosum (ORPHA:910)
Association type: UNKNOWN
Gene: ERCC1
Disease: CEREBROOCULOFACIOSKELETAL SYNDROME 4 (OMIM:610758)
Association type: MENDELIAN
Gene: ERCC1
Disease: COFS syndrome; Cerebrooculofacioskeletal syndrome; Pena-Shokeir syndrome type 2 (ORPHA:1466)
Association type: UNKNOWN
Gene: ERCC1
Disease: Cockayne syndrome type 2; Cockayne syndrome type II (ORPHA:90322)
Association type: UNKNOWN
Gene: SMC3
Disease: CORNELIA DE LANGE SYNDROME 3 WITH OR WITHOUT MIDLINE BRAIN DEFECTS (OMIM:610759)
Association type: MENDELIAN
Gene: SMC3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: SMC3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: SMC3
Disease: Cornelia de Lange syndrome; Brachmann-de Lange syndrome (ORPHA:199)
Association type: UNKNOWN
Gene: SLC25A15
Disease: HYPERORNITHINEMIA-HYPERAMMONEMIA-HOMOCITRULLINURIA SYNDROME (OMIM:238970)
Association type: MENDELIAN
Gene: SLC25A15
Disease: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome; HHH syndrome; ORNT1 deficiency; Ornithine carrier deficiency; Ornithine translocase deficiency; Triple H syndrome (ORPHA:415)
Association type: UNKNOWN
Gene: LCT
Disease: LACTASE DEFICIENCY, CONGENITAL (OMIM:223000)
Association type: MENDELIAN
Gene: LCT
Disease: Congenital lactase deficiency (ORPHA:53690)
Association type: UNKNOWN
Gene: IRF8
Disease: IMMUNODEFICIENCY 32B (OMIM:226990)
Association type: MENDELIAN
Gene: IRF8
Disease: IMMUNODEFICIENCY 32A (OMIM:614893)
Association type: MENDELIAN
Gene: IRF8
Disease: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency; MSMD due to partial IRF8 deficiency; MSMD due to partial interferon regulatory factor 8 deficiency; Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency (ORPHA:319600)
Association type: UNKNOWN
Gene: SCARB1
Disease: HIGH DENSITY LIPOPROTEIN CHOLESTEROL LEVEL QUANTITATIVE TRAIT LOCUS 6 (OMIM:610762)
Association type: MENDELIAN
Gene: SCARB1
Disease: Familial Hyperalphalipoproteinemia (ORPHA:181428)
Association type: UNKNOWN
Gene: DOLK
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Im (OMIM:610768)
Association type: MENDELIAN
Gene: DOLK
Disease: DK1-CDG; CDG syndrome type Im; CDG-Im; CDG1M; Carbohydrate deficient glycoprotein syndrome type Im; Congenital disorder of glycosylation type 1m; Congenital disorder of glycosylation type Im; Dolichol kinase deficiency; Hypotonia and ichthyosis due to dolichol phosphate deficiency (ORPHA:91131)
Association type: UNKNOWN
Gene: DOLK
Disease: Familial isolated dilated cardiomyopathy; Familial or idiopathic dilated cardiomyopathy (ORPHA:154)
Association type: UNKNOWN
Gene: AGK
Disease: SENGERS SYNDROME (OMIM:212350)
Association type: MENDELIAN
Gene: AGK
Disease: CATARACT 38 (OMIM:614691)
Association type: MENDELIAN
Gene: AGK
Disease: Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome; Sengers syndrome (ORPHA:1369)
Association type: UNKNOWN
Gene: AGK
Disease: Total early-onset cataract (ORPHA:98994)
Association type: UNKNOWN
Gene: FDX2
Disease: MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY (OMIM:251900)
Association type: MENDELIAN
Gene: KAT5
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, SLEEP DISTURBANCE, AND BRAIN ABNORMALITIES (OMIM:619103)
Association type: MENDELIAN
Gene: EIF2AK3
Disease: EPIPHYSEAL DYSPLASIA, MULTIPLE, WITH EARLY-ONSET DIABETES MELLITUS (OMIM:226980)
Association type: MENDELIAN
Gene: EIF2AK3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: EIF2AK3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: EIF2AK3
Disease: Wolcott-Rallison syndrome; Early-onset diabetes mellitus with multiple epiphyseal dysplasia; WRS (ORPHA:1667)
Association type: UNKNOWN
Gene: SLC25A3
Disease: MITOCHONDRIAL PHOSPHATE CARRIER DEFICIENCY (OMIM:610773)
Association type: MENDELIAN
Gene: SLC25A3
Disease: Cardiomyopathy-hypotonia-lactic acidosis syndrome (ORPHA:91130)
Association type: UNKNOWN
Gene: M1AP
Disease: SPERMATOGENIC FAILURE 48 (OMIM:619108)
Association type: MENDELIAN
Gene: B4GALT1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IId (OMIM:607091)
Association type: MENDELIAN