TaoMedAI/RareMedData huggingface dataset:
Gene: AK2
Disease: Reticular dysgenesis; AK2 deficiency; De Vaal disease; SCID with sensorineural deafness; SCID with sensorineural hearing loss; Severe combined immunodeficiency with sensorineural deafness; Severe combined immunodeficiency with sensorineural hearing loss (ORPHA:33355)
Association type: UNKNOWN
Gene: POGLUT1
Disease: DOWLING-DEGOS DISEASE 4 (OMIM:615696)
Association type: MENDELIAN
Gene: POGLUT1
Disease: MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 21 (OMIM:617232)
Association type: MENDELIAN
Gene: POGLUT1
Disease: POGLUT1-related limb-girdle muscular dystrophy R21; Autosomal recessive limb-girdle muscular dystrophy type 2Z; LGMD type 2Z; LGMD2Z; Limb-girdle muscular dystrophy type 2Z; POGLUT1-related LGMD R21 (ORPHA:480682)
Association type: UNKNOWN
Gene: POGLUT1
Disease: Dowling-Degos disease; Reticular pigment anomaly of flexures (ORPHA:79145)
Association type: UNKNOWN
Gene: POU1F1
Disease: PITUITARY HORMONE DEFICIENCY, COMBINED, 1 (OMIM:613038)
Association type: MENDELIAN
Gene: POU1F1
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: POU1F1
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: POU1F1
Disease: Combined pituitary hormone deficiencies, genetic forms; Familial congenital hypopituitarism; Multiple pituitary hormone deficiencies, genetic forms (ORPHA:95494)
Association type: UNKNOWN
Gene: POU1F1
Disease: Hypothyroidism due to deficient transcription factors involved in pituitary development or function (ORPHA:226307)
Association type: UNKNOWN
Gene: POU1F1
Disease: Isolated growth hormone deficiency type II; Congenital IGHD type II; Congenital isolated GH deficiency type II; Congenital isolated growth hormone deficiency type II (ORPHA:231679)
Association type: UNKNOWN
Gene: MYH14
Disease: PERIPHERAL NEUROPATHY, MYOPATHY, HOARSENESS, AND HEARING LOSS (OMIM:614369)
Association type: MENDELIAN
Gene: MYH14
Disease: DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
Association type: MENDELIAN
Gene: MYH14
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: MYH14
Disease: Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome; Peripheral neuropathy-myopathy-hoarseness-deafness syndrome (ORPHA:397744)
Association type: UNKNOWN
Gene: WNT3
Disease: TETRAAMELIA SYNDROME 1 (OMIM:273395)
Association type: MENDELIAN
Gene: WNT3
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: WNT3
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: WNT3
Disease: Tetraamelia-multiple malformations syndrome; PAPPA syndrome; PAPPAS; Zimmer phocomelia (ORPHA:3301)
Association type: UNKNOWN
Gene: SIX3
Disease: HOLOPROSENCEPHALY 2 (OMIM:157170)
Association type: MENDELIAN
Gene: SIX3
Disease: SCHIZENCEPHALY (OMIM:269160)
Association type: MENDELIAN
Gene: SIX3
Disease: Septopreoptic holoprosencephaly; Septopreoptic HPE (ORPHA:280195)
Association type: UNKNOWN
Gene: SIX3
Disease: Semilobar holoprosencephaly (ORPHA:220386)
Association type: UNKNOWN
Gene: SIX3
Disease: Microform holoprosencephaly; HPE, minor form; HPE-L; Holoprosencephaly, minor form; Holoprosencephaly-like; Microform HPE (ORPHA:280200)
Association type: UNKNOWN
Gene: SIX3
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: SIX3
Disease: Lobar holoprosencephaly (ORPHA:93924)
Association type: UNKNOWN
Gene: SIX3
Disease: Alobar holoprosencephaly (ORPHA:93925)
Association type: UNKNOWN
Gene: SIX3
Disease: Acquired schizencephaly (ORPHA:485275)
Association type: UNKNOWN
Gene: AAAS
Disease: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME (OMIM:231550)
Association type: MENDELIAN
Gene: AAAS
Disease: Triple A syndrome; 2A syndrome; 3A syndrome; 4A syndrome; AAA syndrome; Achalasia-addisonianism-alacrima syndrome; Adrenal insufficiency-achalasia-alacrima syndrome; Allgrove syndrome; Double A syndrome; Quaternary A syndrome (ORPHA:869)
Association type: UNKNOWN
Gene: GAN
Disease: GIANT AXONAL NEUROPATHY 1, AUTOSOMAL RECESSIVE (OMIM:256850)
Association type: MENDELIAN
Gene: GAN
Disease: Giant axonal neuropathy; GAN (ORPHA:643)
Association type: UNKNOWN
Gene: TBX5
Disease: HOLT-ORAM SYNDROME (OMIM:142900)
Association type: MENDELIAN
Gene: TBX5
Disease: TETRALOGY OF FALLOT (OMIM:187500)
Association type: MENDELIAN
Gene: TBX5
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: TBX5
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: TBX5
Disease: Holt-Oram syndrome; Atriodigital dysplasia type 1; HOS; Heart-hand syndrome type 1 (ORPHA:392)
Association type: UNKNOWN
Gene: TBX5
Disease: Romano-Ward syndrome; Romano-Ward long QT syndrome (ORPHA:101016)
Association type: UNKNOWN
Gene: CSF2RB
Disease: SURFACTANT METABOLISM DYSFUNCTION, PULMONARY, 5 (OMIM:614370)
Association type: MENDELIAN
Gene: CSF2RB
Disease: Hereditary pulmonary alveolar proteinosis; Congenital PAP; Congenital pulmonary alveolar proteinosis (ORPHA:264675)
Association type: UNKNOWN
Gene: MBL2
Disease: MANNOSE-BINDING LECTIN DEFICIENCY (OMIM:614372)
Association type: POLYGENIC
Gene: CCT5
Disease: NEUROPATHY, HEREDITARY SENSORY, WITH SPASTIC PARAPLEGIA, AUTOSOMAL RECESSIVE (OMIM:256840)
Association type: MENDELIAN
Gene: CCT5
Disease: Mutilating hereditary sensory neuropathy with spastic paraplegia; Mutilating HSAN with spastic paraplegia (ORPHA:139578)
Association type: UNKNOWN
Gene: C4B
Disease: COMPLEMENT COMPONENT 4B DEFICIENCY (OMIM:614379)
Association type: MENDELIAN
Gene: C4B
Disease: Immunodeficiency due to a classical component pathway complement deficiency; Immunodeficiency due to C1, C4, or C2 component complement deficiency; Immunodeficiency due to an early component of complement deficiency (ORPHA:169147)
Association type: UNKNOWN
Gene: C4B
Disease: Systemic lupus erythematosus; Disseminated lupus erythematosus; SLE (ORPHA:536)
Association type: UNKNOWN
Gene: AR
Disease: SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1 (OMIM:313200)
Association type: MENDELIAN
Gene: AR
Disease: ANDROGEN INSENSITIVITY SYNDROME (OMIM:300068)
Association type: MENDELIAN
Gene: AR
Disease:  (OMIM:301120)
Association type: POLYGENIC
Gene: AR
Disease: ANDROGEN INSENSITIVITY, PARTIAL (OMIM:312300)
Association type: MENDELIAN
Gene: AR
Disease: HYPOSPADIAS 1, X-LINKED (OMIM:300633)
Association type: MENDELIAN
Gene: AR
Disease: Partial androgen insensitivity syndrome; PAIS; Partial androgen resistance syndrome (ORPHA:90797)
Association type: UNKNOWN
Gene: AR
Disease: Non-syndromic posterior hypospadias; Hypospadias, severe form; Perineal, scrotal or penoscrotal hypospadias (ORPHA:95706)
Association type: UNKNOWN
Gene: AR
Disease: Complete androgen insensitivity syndrome; CAIS; Complete androgen resistance syndrome (ORPHA:99429)
Association type: UNKNOWN
Gene: AR
Disease: Kennedy disease; SBMA; SMAX1; X-linked BSMA; X-linked bulbospinal amyotrophy; X-linked bulbospinal muscular atrophy; X-linked spinal and bulbar muscular atrophy (ORPHA:481)
Association type: UNKNOWN
Gene: OTOF
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 9 (OMIM:601071)
Association type: MENDELIAN
Gene: OTOF
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: TMPRSS3
Disease: DEAFNESS, AUTOSOMAL RECESSIVE 8 (OMIM:601072)
Association type: MENDELIAN
Gene: TMPRSS3
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: C9
Disease: MACULAR DEGENERATION, AGE-RELATED, 15 (OMIM:615591)
Association type: POLYGENIC
Gene: C9
Disease: COMPLEMENT COMPONENT 9 DEFICIENCY (OMIM:613825)
Association type: MENDELIAN
Gene: C9
Disease: Immunodeficiency due to a late component of complement deficiency; Immunodeficiency due to C5 to C9 component complement deficiency; Terminal complement pathway deficiency (ORPHA:169150)
Association type: UNKNOWN
Gene: IKBKB
Disease: IMMUNODEFICIENCY 15B (OMIM:615592)
Association type: MENDELIAN
Gene: IKBKB
Disease: IMMUNODEFICIENCY 15A (OMIM:618204)
Association type: MENDELIAN
Gene: IKBKB
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: IKBKB
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: IKBKB
Disease:  (ORPHA:700205)
Association type: UNKNOWN
Gene: IKBKB
Disease: Combined immunodeficiency due to IKK2 deficiency; CID due to IKK2 deficiency; Combined immunodeficiency due to I-kappa-B kinase 2 deficiency (ORPHA:397787)
Association type: UNKNOWN
Gene: STAMBP
Disease: MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME (OMIM:614261)
Association type: MENDELIAN
Gene: STAMBP
Disease: Microcephaly-capillary malformation syndrome; MIC-CAP syndrome; MIC-CM syndrome; Microcephaly-cutaneous capillary malformation syndrome (ORPHA:294016)
Association type: UNKNOWN
Gene: ADAM10
Disease: ALZHEIMER DISEASE 18 (OMIM:615590)
Association type: POLYGENIC
Gene: ADAM10
Disease: RETICULATE ACROPIGMENTATION OF KITAMURA (OMIM:615537)
Association type: MENDELIAN
Gene: ADAM10
Disease: Reticulate acropigmentation of Kitamura; RAK (ORPHA:178307)
Association type: UNKNOWN
Gene: LYRM4
Disease: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 19 (OMIM:615595)
Association type: MENDELIAN
Gene: LYRM4
Disease: Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency (ORPHA:397593)
Association type: UNKNOWN
Gene: STT3A
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw (OMIM:615596)
Association type: MENDELIAN
Gene: STT3A
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Iw, AUTOSOMAL DOMINANT (OMIM:619714)
Association type: MENDELIAN
Gene: STT3A
Disease: STT3A-CDG; CDG syndrome type Iw; CDG-Iw; CDG1W; Congenital disorder of glycosylation type 1w; Congenital disorder of glycosylation type Iw (ORPHA:370921)
Association type: UNKNOWN
Gene: ACSF3
Disease: COMBINED MALONIC AND METHYLMALONIC ACIDURIA (OMIM:614265)
Association type: MENDELIAN
Gene: ACSF3
Disease: Combined malonic and methylmalonic acidemia; CMAMMA; Combined malonic and methylmalonic aciduria (ORPHA:289504)
Association type: UNKNOWN
Gene: TNFRSF4
Disease: IMMUNODEFICIENCY 16 (OMIM:615593)
Association type: MENDELIAN
Gene: TNFRSF4
Disease: Combined immunodeficiency due to OX40 deficiency; Combined immunodeficiency with childhood-onset Kaposi sarcoma; Combined immunodeficiency with impaired immunity to HHV-8; Combined immunodeficiency with impaired immunity to human herpes virus 8 (ORPHA:431149)
Association type: UNKNOWN
Gene: NEK9
Disease: ARTHROGRYPOSIS, PERTHES DISEASE, AND UPWARD GAZE PALSY (OMIM:614262)
Association type: MENDELIAN
Gene: NEK9
Disease: LETHAL CONGENITAL CONTRACTURE SYNDROME 10 (OMIM:617022)
Association type: MENDELIAN
Gene: NEK9
Disease: NEVUS COMEDONICUS (OMIM:617025)
Association type: MENDELIAN
Gene: NEK9
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: NEK9
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: NEK9
Disease: Nevus comedonicus syndrome (ORPHA:64754)
Association type: UNKNOWN
Gene: NEK9
Disease: NEK9-related lethal skeletal dysplasia; Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome (ORPHA:464366)
Association type: UNKNOWN
Gene: TAF2
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 40 (OMIM:615599)
Association type: MENDELIAN
Gene: TAF2
Disease: Microcephaly-thin corpus callosum-intellectual disability syndrome (ORPHA:397951)
Association type: UNKNOWN
Gene: STT3B
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ix (OMIM:615597)
Association type: MENDELIAN
Gene: STT3B
Disease: STT3B-CDG; CDG syndrome type Ix; CDG-Ix; CDG1X; Carbohydrate deficient glycoprotein syndrome type Ix; Congenital disorder of glycosylation type 1x; Congenital disorder of glycosylation type Ix (ORPHA:370924)
Association type: UNKNOWN
Gene: ASCC1
Disease: BARRETT ESOPHAGUS (OMIM:614266)
Association type: MENDELIAN
Gene: ASCC1
Disease: SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2 (OMIM:616867)
Association type: MENDELIAN
Gene: ASCC1
Disease: Prenatal-onset spinal muscular atrophy with congenital bone fractures; SMABF (ORPHA:486811)
Association type: UNKNOWN
Gene: CTHRC1
Disease: BARRETT ESOPHAGUS (OMIM:614266)
Association type: MENDELIAN
Gene: MSR1
Disease: BARRETT ESOPHAGUS (OMIM:614266)
Association type: MENDELIAN
Gene: MSR1
Disease: Familial prostate cancer (ORPHA:1331)
Association type: UNKNOWN
Gene: TMEM127
Disease: PHEOCHROMOCYTOMA (OMIM:171300)
Association type: POLYGENIC
Gene: TMEM127
Disease: Clear cell papillary renal cell carcinoma (ORPHA:404511)
Association type: UNKNOWN
Gene: TMEM127
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: MAX
Disease: PHEOCHROMOCYTOMA (OMIM:171300)
Association type: POLYGENIC
Gene: MAX
Disease: POLYDACTYLY-MACROCEPHALY SYNDROME (OMIM:620712)
Association type: MENDELIAN
Gene: MAX
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: KIF1B
Disease: PHEOCHROMOCYTOMA (OMIM:171300)
Association type: MENDELIAN
Gene: KIF1B
Disease: NEUROBLASTOMA, SUSCEPTIBILITY TO, 1 (OMIM:256700)
Association type: POLYGENIC
Gene: KIF1B
Disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2A1 (OMIM:118210)
Association type: MENDELIAN
Gene: KIF1B
Disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A1; CMT2A1 (ORPHA:99946)
Association type: UNKNOWN
Gene: KIF1B
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: VHL
Disease: PHEOCHROMOCYTOMA (OMIM:171300)
Association type: MENDELIAN
Gene: VHL
Disease: VON HIPPEL-LINDAU SYNDROME (OMIM:193300)
Association type: MENDELIAN
Gene: VHL
Disease: RENAL CELL CARCINOMA, NONPAPILLARY (OMIM:144700)
Association type: MENDELIAN
Gene: VHL
Disease: ERYTHROCYTOSIS, FAMILIAL, 2 (OMIM:263400)
Association type: MENDELIAN
Gene: VHL
Disease: Chuvash erythrocytosis; Chuvash polycythemia; Von Hippel-Lindau-dependent polycythemia (ORPHA:238557)
Association type: UNKNOWN
Gene: VHL
Disease: Von Hippel-Lindau disease; Familial cerebelloretinal angiomatosis; Lindau disease; VHL; Von Hippel-Lindau syndrome (ORPHA:892)
Association type: UNKNOWN
Gene: VHL
Disease: Sporadic pheochromocytoma/secreting paraganglioma (ORPHA:276621)
Association type: UNKNOWN
Gene: VHL
Disease: Hereditary pheochromocytoma-paraganglioma; Familial pheochromocytoma-paraganglioma (ORPHA:29072)
Association type: UNKNOWN
Gene: SERPINB7
Disease: PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE (OMIM:615598)
Association type: MENDELIAN
Gene: SERPINB7
Disease: Palmoplantar keratoderma, Nagashima type; PPK, Nagashima type; Palmoplantar hyperkeratosis, Nagashima type (ORPHA:140966)
Association type: UNKNOWN
Gene: OPLAH
Disease: 5-OXOPROLINASE DEFICIENCY (OMIM:260005)
Association type: MENDELIAN
Gene: OPLAH
Disease: 5-oxoprolinase deficiency; Oxoprolinuria due to oxoprolinase deficiency (ORPHA:33572)
Association type: UNKNOWN
Gene: MLYCD
Disease: MALONYL-CoA DECARBOXYLASE DEFICIENCY (OMIM:248360)
Association type: MENDELIAN
Gene: MLYCD
Disease: Malonic aciduria; Deficiency of malonyl-CoA decarboxylase; MLYCD deficiency; Malonic acidemia; Malonyl-CoA decarboxylase deficiency (ORPHA:943)
Association type: UNKNOWN
Gene: SREBF1
Disease: MUCOEPITHELIAL DYSPLASIA, HEREDITARY (OMIM:158310)
Association type: MENDELIAN
Gene: SREBF1
Disease: IFAP SYNDROME 2 (OMIM:619016)
Association type: MENDELIAN
Gene: SREBF1
Disease: Hirschsprung disease; Aganglionic megacolon; Colonic aganglionosis; Congenital intestinal aganglionosis; HSCR (ORPHA:388)
Association type: UNKNOWN
Gene: GRHPR
Disease: HYPEROXALURIA, PRIMARY, TYPE II (OMIM:260000)
Association type: MENDELIAN
Gene: GRHPR
Disease: Primary hyperoxaluria type 2; D-glycerate dehydrogenase deficiency; L-glyceric aciduria (ORPHA:93599)
Association type: UNKNOWN
Gene: AKR1C4
Disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Association type: POLYGENIC
Gene: AKR1C4
Disease: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency (ORPHA:443087)
Association type: UNKNOWN
Gene: AKR1C2
Disease: 46,XY SEX REVERSAL 8 (OMIM:614279)
Association type: MENDELIAN
Gene: AKR1C2
Disease: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency; 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency (ORPHA:443087)
Association type: UNKNOWN
Gene: MEN1
Disease: HYPERPARATHYROIDISM 1 (OMIM:145000)
Association type: MENDELIAN
Gene: MEN1
Disease: MULTIPLE ENDOCRINE NEOPLASIA, TYPE I (OMIM:131100)
Association type: MENDELIAN
Gene: MEN1
Disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Association type: UNKNOWN
Gene: MEN1
Disease: Insulinoma (ORPHA:97279)
Association type: UNKNOWN
Gene: MEN1
Disease: Multiple endocrine neoplasia type 1; MEN1; Wermer syndrome (ORPHA:652)
Association type: UNKNOWN
Gene: MEN1
Disease: Prolactinoma; Lactotroph adenoma; PRL-secreting pituitary adenoma; PRLoma; Pituitary lactotrophic adenoma; Prolactin-secreting pituitary adenoma (ORPHA:2965)
Association type: UNKNOWN
Gene: MEN1
Disease: Null pituitary adenoma (ORPHA:314790)
Association type: UNKNOWN
Gene: MEN1
Disease: Silent pituitary adenoma (ORPHA:314786)
Association type: UNKNOWN
Gene: MEN1
Disease: Pituitary gigantism; Hypophyseal gigantism; Infantile and juvenile forms of acromegaly (ORPHA:99725)
Association type: UNKNOWN
Gene: CDC73
Disease: HYPERPARATHYROIDISM 1 (OMIM:145000)
Association type: MENDELIAN
Gene: CDC73
Disease: HYPERPARATHYROIDISM 2 WITH JAW TUMORS (OMIM:145001)
Association type: MENDELIAN
Gene: CDC73
Disease: PARATHYROID CARCINOMA (OMIM:608266)
Association type: MENDELIAN
Gene: CDC73
Disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Association type: MENDELIAN
Gene: CDC73
Disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Association type: MENDELIAN
Gene: CDC73
Disease: Hyperparathyroidism-jaw tumor syndrome; HPT-JT (ORPHA:99880)
Association type: UNKNOWN
Gene: CDC73
Disease: Familial isolated hyperparathyroidism; FIHPT (ORPHA:99879)
Association type: UNKNOWN
Gene: CDC73
Disease: Parathyroid carcinoma (ORPHA:143)
Association type: UNKNOWN
Gene: PLA2G7
Disease: PLATELET-ACTIVATING FACTOR ACETYLHYDROLASE DEFICIENCY (OMIM:614278)
Association type: MENDELIAN
Gene: MOCOS
Disease: XANTHINURIA, TYPE II (OMIM:603592)
Association type: MENDELIAN
Gene: MOCOS
Disease: Xanthinuria type II; XDH and AOX dual deficiency; Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency (ORPHA:93602)
Association type: UNKNOWN
Gene: SLC35A1
Disease: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIf (OMIM:603585)
Association type: MENDELIAN
Gene: SLC35A1
Disease: SLC35A1-CDG; CDG syndrome type IIf; CDG-IIf; CDG2F; CMP-sialic acid transporter deficiency; Carbohydrate deficient glycoprotein syndrome type IIf; Congenital disorder of glycosylation type 2f; Congenital disorder of glycosylation type IIf (ORPHA:238459)
Association type: UNKNOWN
Gene: COLEC10
Disease: 3MC SYNDROME 3 (OMIM:248340)
Association type: MENDELIAN
Gene: COLEC10
Disease: 3MC syndrome; Craniofacial-ulnar-renal syndrome; Malpuech-Michels-Mingarelli-Carnevale syndrome (ORPHA:293843)
Association type: UNKNOWN
Gene: RHD
Disease: BLOOD GROUP, RH SYSTEM (OMIM:111690)
Association type: MENDELIAN
Gene: RHD
Disease: HEMOLYTIC DISEASE OF FETUS AND NEWBORN, RH-INDUCED (OMIM:619462)
Association type: POLYGENIC
Gene: RHD
Disease: Rh deficiency syndrome; Rh-null syndrome (ORPHA:71275)
Association type: UNKNOWN
Gene: ASXL1
Disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Association type: MENDELIAN
Gene: ASXL1
Disease: BOHRING-OPITZ SYNDROME (OMIM:605039)
Association type: MENDELIAN
Gene: ASXL1
Disease: Bohring-Opitz syndrome; BOS syndrome; Bohring syndrome; C-like syndrome; Oberklaid-Danks syndrome; Opitz trigonocephaly-like syndrome (ORPHA:97297)
Association type: UNKNOWN
Gene: ASXL1
Disease: Aggressive systemic mastocytosis (ORPHA:98850)
Association type: UNKNOWN
Gene: ASXL1
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: ASXL1
Disease: Acute myeloid leukaemia with myelodysplasia-related features; AML with multilineage dysplasia; AML with myelodysplasia-related features; Acute myeloid leukemia with multilineage dysplasia (ORPHA:86845)
Association type: UNKNOWN
Gene: ASXL1
Disease: Chronic myelomonocytic leukemia; CMML (ORPHA:98823)
Association type: UNKNOWN
Gene: SF3B1
Disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Association type: MENDELIAN
Gene: SF3B1
Disease: Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; RARS; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Association type: UNKNOWN
Gene: SF3B1
Disease: Uveal melanoma; Choroid melanoma; Choroidal and ciliary body melanomas; Melanoma of choroid; Melanoma of uvea (ORPHA:39044)
Association type: UNKNOWN
Gene: TET2
Disease: MYELODYSPLASTIC SYNDROME (OMIM:614286)
Association type: MENDELIAN
Gene: TET2
Disease: IMMUNODEFICIENCY 75 (OMIM:619126)
Association type: MENDELIAN
Gene: TET2
Disease: Essential thrombocythemia; ET; Essential thrombocytosis (ORPHA:3318)
Association type: UNKNOWN
Gene: TET2
Disease: Aggressive systemic mastocytosis (ORPHA:98850)
Association type: UNKNOWN
Gene: TET2
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: TET2
Disease: Acute myeloid leukaemia with myelodysplasia-related features; AML with multilineage dysplasia; AML with myelodysplasia-related features; Acute myeloid leukemia with multilineage dysplasia (ORPHA:86845)
Association type: UNKNOWN
Gene: TET2
Disease: Myelodysplastic neoplasm with low blasts; MDS-LB; Refractory anemia (ORPHA:98826)
Association type: UNKNOWN
Gene: TET2
Disease: Primary myelofibrosis; Agnogenic myeloid metaplasia; Idiopathic myelofibrosis; Myelofibrosis with myeloid metaplasia; Osteomyelofibrosis (ORPHA:824)
Association type: UNKNOWN
Gene: TET2
Disease: Acquired idiopathic sideroblastic anemia; AISA; Primary acquired sideroblastic anemia; RARS; Refractory anemia with ringed sideroblasts (ORPHA:75564)
Association type: UNKNOWN
Gene: TET2
Disease: Myelodysplastic neoplasm with increased blasts type 2; MDS-IB2; RAEB-2; Refractory anemia with excess blasts type 2 (ORPHA:100020)
Association type: UNKNOWN
Gene: TET2
Disease: Myelodysplastic neoplasm with increased blasts type 1; MDS-IB1; RAEB-1; Refractory anemia with excess blasts type 1 (ORPHA:100019)
Association type: UNKNOWN