Supplementary Table 1
OMIM / gi accession / {Function} protein name / Disease / repeats100730 / 7382454 / {Transport} - pore | CHOLINERGIC RECEPTOR, NICOTINIC, GAMMA POLYPEPTIDE / Myasthenia gravis, neonatal transient / l
100790 / 20455478 / Achaete-scute complex, drosophila, homolog-like 1; ASCL1; MASH1; HASH1. {Transcription factor}, involved in the development of neuronal progenitors in distinct neural lineages / medullary thyroid cancer, small cell lung cancer. / a / q
102480 / 4501877 / {Enzyme} serine proteinase | ACROSIN / Male infertility due to acrosin deficiency / p
102770 / 35525168 / {Enzyme}Deamination of AMP to IMP | ADENOSINE MONOPHOSPHATE DEAMINASE 1 / Muscle weakness and atrophy / k
103072 / 31083193 / {Signaling} | Adenylate cyclase | Adenylate cyclase 1 / g
104155 / 20987426 / Alpha-fetoprotein enhancer-binding protein; ATBF1. {Transcription} enhancer / factor / q
104219 / 7690135 / {Signaling} G protein coupled receptor | Alpha 1D adrenergic receptor / r
104220 / 4501959 / {Signaling} | G protein coupled receptor | Alpha 1B adrenergic receptor / r
104260 / 33598960 / {Signaling} | 2b-adrenergic receptor; adra2b. Regulates neurotransmitter release, autonomic nervous system (ANS) function / Metabolic disorder? / e
104760 / 41406057 / {Unknown} | AMYLOID BETA A4 PRECURSOR PROTEIN / Amyloidosis, cerebroarterial, Dutch type (3) - Alzheimer disease-1, APP-related (3) - Schizophrenia, chronic (3) / t
104776 / 12653211 / Amyloid A4 precursor-like protein 2; APLP2; CDEBP; Sperm membrane protein. {DNA binding protein} / e
105590 / 29029632 / {Signaling} | Anaplastic Lymphoma Kinase / Large cell lymphoma / g
106195 / 42415529 / Ion {channel}, other | Solute carrier family 4 (anion exchange), member 3 / e
107770 / 4758686 / {Transport} Cell surface receptor | Low density lipoprotein receptor-related protein 1 / l
108960 / 40254426 / {Signalling} | NATRIURETIC PEPTIDE RECEPTOR A/GUANYLATE CYCLASE A / hypertensive heart disease / l
112266 / 4502425 / {Unknown} Ligand | Bone morphogenetic protein 6 / a
113300 / 9625000 / {Transcription factor} | homeo box D13 / BRACHYDACTYLY - TYPE E / a / s
113705 / 38382815 / {Transcription factor} - DNA repair | BREAST CANCER GENE 1 / Breast cancer-1 | Ovarian cancer (3); Breast-ovarian cancer | Papillary serous carcinoma of the peritoneum / k
113725 / 4758948 / POU domain, class 4, {transcription factor} 2; POU4F2; BRN3B. / Retinal abnormalities / g / s / h
114106 / 21615536 / {Enzyme} Protein phosphatase 3, catalytic subunit, isoform; PPP3CB. Phosphatase / Murine knockout reveals role in heart development / p
114170 / 40674605 / {Adhesion} Calpain, small subunit 1; CAPNS1; CAPN4; CANPS; CDPS. Possible proteinase regulation. / Knockout mice died after day 11.5 correlated with the accumulation of nucleated erythroid cells / g
114206 / 6165985 / {Transport} Voltage gated channel | Calcium channel voltage dependent, L type alpha 1D subunit / m / e
114213 / 33878450 / {Structural} Cytoskeletal protein | Caldesmon 1 / k
114250 / 21536274 / Ca+ {storage} | CALSEQUESTRIN / Duchenne and Becker types of muscular dystrophy / d
116897 / 1877205 / {DNA binding}CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA / Leukemia acute myeloid / p
116951 / 16357486 / Kinase - {mRNA processing} regulation | CELL DIVISION CYCLE 2-LIKE 2; CDC2L2 / Pathogenesis of neuroblastoma / e
117140 / 21735415 / {DNA binding} Centromeric protein B; CENPB / Knockout mice showed reduced testis or uterine weight. / e
118503 / 13543946 / {Transport - signaling} | CHOLINERGIC RECEPTOR NEURONAL NICOTINIC ALPHA POLYPEPTIDE 3 / Megacystis-microcolon-intestinal hypoperistalsis syndrome / l
118860 / 26996824 / {Signaling} Peptide hormone | Chorionic gonoadotropin, beta chain / l
118910 / 40225646 / {Unknown} Secreted polypeptide, miscellaneous | Chromogranin A / e
120270 / 1196421 / {Structural} | COLLAGEN TYPE IX ALPHA-3 / Epiphyseal dysplasia multiple 3 | Epiphyseal dysplasia multiple with myopathy | Intervertebral disc disease susceptibility to / l
120575 / 27363488 / Complement pathway - {signalling} | Complement C1q subcomponent / C1q deficiency / l
123829 / 4502735 / {Enzyme} Cytokinesis - transferase | CYCLIN-DEPENDENT KINASE 4 / Melanoma / g
123900 / 21614499 / {Anchor protein} | Ezrin / p
125264 / 4503249 / {Transcription factor} | DEK ONCOGENE / Leukemia - acute nonlymphocytic / e
125305 / 31127246 / {Structural} protein | Dematin / e
126255 / 4758168 / {Transcription factor} | DISTAL-LESS HOMEOBOX 3 / homozygous mice died - +/- mice had altered differentiation of interneurons in the olfactory bulb and abnormal morphogenesis of the cranial neural crest-derived skeletal structures formed from the proximal first and second branchial arches, causing cleft palate. / g / h
126420 / 33872820 / {Enzyme} Topoisomerase | DNA topoisomerase I / Camptothecin resistance, / k
128990 / 4503493 / {Transcription factor} | Early growth response protein 1 / g
129010 / 181987 / {DNA binding} | EARLY GROWTH RESPONSE 2 / Neuropathy congenital hypomyelinating | Charcot-Marie-Tooth disease type 1D | Dejerine-Sottas neuropathy / a / p
130160 / 119297 / Protein folding - {structure} | ELASTIN / Supravalvar aortic stenosis - Williams-Beuren syndrome - Cutis laxa, AD / a
130610 / 33869643 / {Translation} regulatory protein | Eukaryotic translation elongation factor 2 / k
131290 / 7710119 / {Transcription factor} | ENGRAILED / a
133435 / 28329419 / {Transcription factor} | ETO / Acute myeloid leukemia, / s
133540 / 4557565 / {Transcription} - DNA repair | EXCISION-REPAIR CROSS-COMPLEMENTING RODENT REPAIR DEFICIENCY COMPLEMENTATION GROUP 6 / Cockayne syndrome-2 type B | Cerebrooculofacioskeletal syndrome | De Sanctis-Cacchione syndrome / e
134638 / 12597289 / {Signalling} | Tumor necrosis factor ligand superfamily, member 6; / Autoimmune lymphoproliferative syndrome type ib | Systemic lupus erythematosus, susceptibility / p
135821 / 30353774 / {Structural}Extracellular matrix protein | Fibulin 2 / e
136350 / 31368 / {Signaling} | FIBROBLAST GROWTH FACTOR RECEPTOR 1 / Pfeiffer syndrome - Jackson-Weiss syndrome - Kallmann syndrome 2 / d
136533 / 2494484 / {Transcription} factor | FORKHEAD BOX O1A / Rhabdomyosarcoma alveolar / a
136820 / 40068512 / {Enzyme} Hydrolase | Fucosidase alpha-L- 2, plasma / l
137070 / 19913512 / Fusion, derived from 12-16 Translocation, malignant liposarcoma; FUS; TLS. {RNA binding} and is part of the nuclear riboprotein complexes / Liposarcoma; acute myeloid leukemia / g
138033 / 4503947 / {Signaling} | GLUCAGON RECEPTOR / Diabetes mellitus noninsulin-dependent / l
138320 / 41406082 / {Enzyme} antioxidant | GLUTATHIONE PEROXIDASE / Hemolytic anemia due to glutathione peroxidase deficiency (1) / a
139150 / 33392732 / {Signalling} | RAS p21 PROTEIN ACTIVATOR 1 / Basal cell carcinoma - Parkes Weber syndrome - Capillary malformation-arteriovenous malformation / k
139259 / 33874734 / {Translation} Cell cycle control protein | G1 to S phase transition 1 / g
139350 / 386854 / {Structure} | KERATIN 1 / Epidermolytic hyperkeratosis | Cyclic ichthyosis with epidermolytic hyperkeratosis | Keratosis palmoplantaria striata | Ichthyosis histrix Curth-Macklin type | Unna-Thost disease nonepidermolytic | Keratosis palmoplantaris striata III / g
142590 / 18375634 / {Unknown}Unclassified | HLA-B associated transcript 3 / p
142705 / 4504487 / {Unknown} Calcium binding protein | Histidine rich calcium binding protein / d / e
142955 / 41350071 / Homeobox A1 protein; HOXA1. {Transcription factor} involved in neural tube / Possible involvement in autism. / h
142956 / 3237298 / {Transcription factor} | HOX A9 / Acute myeloid leukemia, / r
142957 / 24497549 / Homeobox protein HOXA10; HOXA10; {transcription factor} / g
142958 / 5031759 / {Transcription factor} | HOMEOBOX A11 / Radioulnar synostosis with amegakaryocytic thrombocytopenia / a
142959 / 2828197 / {Transcription factor} | HOMEOBOX A13 / Hand-foot-uterus syndrome - Guttmacher syndrome / a
142965 / 13273315 / {Transcription factor} | Homeobox B4 / p
142966 / 25121961 / {Transcription factor} | HOX B3 / g
142967 / 4504465 / {Transcription factor} | HOX B2 / p
142976 / 24497536 / Homeobox c13; HOXC13; HOX3G. {Transcription factor} / Acute myeloid leukemia / g
142981 / 23397672 / {Transcription factor} | HOMEOBOX D5 / s
142982 / 37573963 / Homeobox D9; HOXD9. {Transcription factor} / g
142985 / 24270881 / Homeobox D8; HOXD8. {Transcription factor} / a / p
142986 / 23510368 / Homeobox D11; HOXD11. {Transcription factor} / a
142989 / 9625000 / {Transcription factor} | HOMEOBOX D13 / Synpolydactyly, type II & Brachydactyly, type E / a / s
142991 / 12231013 / {Transcription factor} | Even Skipped homeobox; EVX2. Transcription factor / a / g
142994 / 5281128 / {Transcription} | HOMEOBOX GENE HB9 / Currarino syndrome / a / g
142995 / 11386181 / {DNA binding} | HOMEOBOX GENE HB24 / q
143024 / 39645120 / {Unknown}Unclassified | Guanine nucleotide-binding protein-like1 / e
143100 / 4586876 / {transporter - transcription - structure} | Huntingtin / Huntington disease / p / q
147390 / 9257225 / {Signalling} | INHIBIN, BETA B / Inhba-null allele demonstrate disruption of whisker, palate, and tooth development leading to neonatal lethality, homozygous Inhbb-null mice are viable, fertile, and have eye defects / p
147545 / 5031805 / {Signaling} | INSULIN RECEPTOR SUBSTRATE 2 / Diabetes mellitus, noninsulin-dependent / p / s
147563 / 4826766 / {Structure} | Adhesion molecule | Integrin binding sialoprotein / e
147574 / 25282407 / {Transcription factor} | Interferon regulatory factor 9 / s
148040 / 4557890 / {Structure} | KERATIN 5 / Epidermolysis bullosa simplex Koebner Dowling-Meara and Weber-Cockayne types | Epidermolysis bullosa simplex with mottled pigmentation / g
148067 / 7717238 / {Structural} | KERATIN 16 / Pachyonychia congenita Jadassohn-Lewandowsky type | Palmoplantar keratoderma, nonepidermolytic | Palmoplantar verrucous nevus unilateral / s
148080 / 547749 / {Structural} | KERATIN 10 / Epidermolytic hyperkeratosis | Nevus, epidermal, epidermolytic hyperkeratotic type | Ichthyosis cyclic with epidermolytic hyperkeratosis / g
150340 / 15126742 / {Structural} protein | Lamin B1 / e
150390 / 20138588 / {Signalling} | LATENT TRANSFORMING GROWTH FACTOR-BETA-BINDING PROTEIN 2 / p
151350 / 24496789 / {Enzyme} Synthetase | Leucyl tRNA synthetase / e
151520 / 42544153 / {Signaling} Leukocyte tyrosine kinase; LTK; TYK1. Transmembrane protein. / g
152445 / 4557725 / {Structural}major component of the crosslinked cell envelope of the epidermis | LORICRIN / Vohwinkel syndrome with ichthyosis, - Erythrokeratoderma, progressive symmetric / g
152780 / 4504989 / {Signaling} | LUTEINIZING HORMONE - BETA POLYPEPTIDE; / Hypogonadism, hypergonadotropic / l
153245 / 11024344 / {Transcription factor} | Lymphoid enhancer binding factor 1 / g
153330 / 18204186 / {Signaling} Integral membrane protein | Lysosome associated membrane protein 1 / l
153456 / 15929303 / {Enzyme} Oxidase | Lysyl oxidase like 1 / p
156100 / 1945155 / {Transcription factor} | MENINGIOMA 1 GENE / Meningioma / g / q
157129 / 33878979 / {Structure} | Microtubule-associated protein 1B; MAP1B; FUTSCH / Fragile X / k
157970 / 33875323 / {Enzyme} Ubiquitin proteasome system protein | Proteasome 26S subunit, non ATPase 7 / k
158370 / 4505285 / {Protective} | MUCIN 2, INTESTINAL / t
159555 / 1490271 / {Transcription} | MYELOID/LYMPHOID OR MIXED LINEAGE LEUKEMIA / Leukemia myeloid/lymphoid or mixed-lineage / a / g / s
159556 / 21361272 / Myeloid / lymphoid or mixed lineage leukemia, translocated to, 1; MLLT1. {DNA binding}. / Leukemia / p
159557 / 5174573 / {Transcription factor} | MLLT2 / s
159558 / 34366449 / {Transcription} Myeloid/lymphoid or mixed lineage leukemia, translocated to, 3; MLLT3 / Myeloid/lymphoid or mixed-lineage leukemia / s
159559 / 12644018 / {Unknown} Cell junction protein | AF6 / p
160730 / 34190229 / {Structural} protein | Myosin heavy polypeptide 1, skeletal muscle, adult / k
160794 / 41350864 / {Structural protein} | Myosin binding protein C, slow type / k
160994 / 37747452 / {RNA binding} Ribonucleoprotein | Heterogeneous nuclear ribonucleoprotein M / g
161650 / 34191084 / Cytoskeletal matrix protein - {structure} | NEBULIN / NEMALINE MYOPATHY / k
162010 / 4505393 / {Signaling} Cell surface receptor | Nerve growth factor receptor / l
163260 / 21748606 / Nuclear factor erythroid 2-like 1; NFE2L1; NRF1; TCF11. {Transcription factor} / The phenotype of the mouse knockout suggests role in fetal liver hematopoiesis / s
163906 / 11321591 / High mobility group BOX 2; HMGB2. {Transcription factor} / e
164035 / 21750187 / {Transcription factor} | Nucleolin; NCL / NEMALINE MYOPATHY / e
164040 / 190238 / {Ribosome assembly - chromatine binding}| NUCLEOPHOSMIN/NUCLEOPLASMIN FAMILY MEMBER 1 / Leukemia, acute promyelocytic, NPM/RARA type (3) / s
164176 / 4505959 / {Transcription factor} | Octamer binding transcription factor 2 / g
164761 / 36001 / {Signaling} | REARRANGED DURING TRANSFECTION PROTOONCOGENE / Multiple endocrine neoplasia IIA, 171400 (3); Medullary thyroid carcinoma, 155240 (3); Multiple endocrine neoplasia IIB, 162300 (3); Hirschsprung disease, 142623 (3); Colonic aganglionosis, total, with small bowel involvement (3); Central hypoventilation syndrome, congenital, 209880 (3) / l / a
164770 / 29900 / {Signalling} - transferase | COLONY-STIMULATING FACTOR 1 RECEPTOR / Myeloid malignancy, predisposition to (3) / l
164772 / 5803017 / {Transcription factor} | Protein fosB / p
164874 / 32307177 / Forkhead box G1B; FOXG1B; FKHL1; QIN; BF1. Neuronal development {transcription factor}. / p / h
164951 / 27894370 / {Transcription - Signaling} Cell surface receptor | Notch 4 / l
165162 / 10938014 / {Transcription factor} | JUN-D / a